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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:autoimmune disease of the nervous system
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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.



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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 chr10:63,715,544...63,719,133
Ensembl chr10:63,217,451...63,221,066
JBrowse link
G Anxa5 annexin A5 ISO RGD PMID:15486486 RGD:10053691 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Eomes eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr 8:127,059,215...127,067,070
Ensembl chr 8:118,181,777...118,188,316
JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 8:53,376,225...53,384,407
Ensembl chr 8:44,479,376...44,487,571
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 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Nefl neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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 1:95,275,728...95,291,133
Ensembl chr 1:86,148,228...86,163,656
JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chr 5:142,661,193...142,670,051
Ensembl chr 5:137,376,564...137,385,351
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
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
DNA:mutations:exons:
CTD
ClinVar
MouseDO
RGD
PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... RGD:11069491 NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More... NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD
ClinVar
PMID:24686847 PMID:25741868 NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chr19:40,091,206...40,100,904
Ensembl chr19:23,186,383...23,196,041
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD
ClinVar
PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chr15:40,717,252...40,770,826
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chr 1:212,323,916...212,325,011
Ensembl chr 1:202,894,643...202,897,516
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:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:145,761,558...145,794,386
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:166,162,315...166,178,881
Ensembl chr 3:145,743,619...145,758,741
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
CTD
ClinVar
MouseDO
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More... NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:154,471,592...154,499,144
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,620,499...117,622,025
Ensembl chr 8:108,693,060...108,744,555
JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,859,700...117,866,692
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,652,390...117,661,502
Ensembl chr 8:108,773,794...108,782,933
JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,175,267...118,234,425
Ensembl chr 8:109,296,738...109,355,852
JBrowse link
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:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Bsn bassoon (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,663,447...117,754,412
Ensembl chr 8:108,788,542...108,875,819
JBrowse link
G C8h3orf62 similar to human chromosome 3 open reading frame 62 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,958,583...117,963,137
Ensembl chr 8:109,036,030...109,097,895
JBrowse link
G Camkv CaM kinase-like vesicle-associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,505,439...117,519,785
Ensembl chr 8:108,626,821...108,641,169
JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,025,192...118,040,143
Ensembl chr 8:109,146,359...109,165,216
JBrowse link
G Cdhr4 cadherin-related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,561,206...117,594,456
Ensembl chr 8:108,682,613...108,690,367
JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,409,136...118,438,593
Ensembl chr 8:109,530,641...109,558,354
JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,002,336...118,019,337
Ensembl chr 8:109,124,762...109,140,791
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,142,009...118,147,082
Ensembl chr 8:109,265,676...109,268,568
JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 NCBI chr17:79,684,988...79,718,399
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,616,029...117,622,866
Ensembl chr 8:108,693,060...108,767,286
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:108,288,401...108,308,979
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:108,350,935...108,355,671
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,129,311...117,133,162
Ensembl chr 8:108,250,667...108,260,210
JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,133,028...117,138,663
Ensembl chr 8:108,250,667...108,260,647
JBrowse link
G Ifrd2 interferon-related developmental regulator 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,139,612...117,144,834
Ensembl chr 8:108,260,969...108,266,194
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,969,099...118,005,724
Ensembl chr 8:109,092,758...109,125,434
JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,135,204...118,139,892
Ensembl chr 8:109,256,728...109,261,359
JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,552,875...117,554,565
Ensembl chr 8:108,674,263...108,675,953
JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,594,177...117,613,266 JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,362,154...118,388,668
Ensembl chr 8:109,484,310...109,510,166
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,020,136...118,025,102
Ensembl chr 8:109,141,594...109,146,918
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G Lsmem2 leucine-rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,144,498...117,149,300
Ensembl chr 8:108,266,345...108,279,115
JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,142,627...118,142,717 JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,452,868...117,471,780
Ensembl chr 8:108,574,388...108,593,156
JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,646,485...117,652,016
Ensembl chr 8:108,768,839...108,773,416
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:108,597,299...108,612,455
JBrowse link
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,132,957...117,136,207
Ensembl chr 8:108,253,302...108,257,563
JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,390,121...118,401,121
Ensembl chr 8:109,511,658...109,522,246
JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,139,891...118,141,723
Ensembl chr 8:109,261,363...109,263,194
JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,854,210...117,860,185
Ensembl chr 8:108,976,464...108,981,067
JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,153,158...118,172,199
Ensembl chr 8:109,274,626...109,292,473
JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,522,371...118,565,478
Ensembl chr 8:109,643,937...109,685,634
JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,271,608...118,337,332
Ensembl chr 8:109,395,833...109,455,628
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:109,207,705...109,215,739
JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,095,435...118,135,001
Ensembl chr 8:109,217,376...109,261,359
JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,298,866...117,328,107
Ensembl chr 8:108,420,222...108,449,430
JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,327,607...117,431,397
Ensembl chr 8:108,452,687...108,552,771
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chr15:40,717,252...40,770,826
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,618,776...117,646,400
Ensembl chr 8:108,739,620...108,767,675
JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,150,307...117,161,570
Ensembl chr 8:108,271,666...108,282,919
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,236,269...117,265,206
Ensembl chr 8:108,357,629...108,387,083
JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,569,975...118,584,880
Ensembl chr 8:109,691,522...109,706,408
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,243,573...118,265,027
Ensembl chr 8:109,365,002...109,386,512
JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,438,110...118,448,271
Ensembl chr 8:109,559,642...109,569,778
JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,202,534...117,220,310
Ensembl chr 8:108,323,894...108,339,988
JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,867,153...117,871,132
Ensembl chr 8:108,988,590...108,991,564
JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,449,870...118,450,764
Ensembl chr 8:109,571,377...109,572,271
JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,520,476...117,540,253
Ensembl chr 8:108,641,852...108,661,638
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:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796
JBrowse link
G Uba7 ubiquitin-like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,543,902...117,552,709
Ensembl chr 8:108,665,292...108,674,099
JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,516,111...118,517,660
Ensembl chr 8:109,638,285...109,639,172
JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,468,223...118,479,968
Ensembl chr 8:109,589,706...109,601,480
JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,069,227...118,080,283
Ensembl chr 8:109,190,724...109,201,741
JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:117,912,576...117,957,934
Ensembl chr 8:109,036,099...109,080,427
JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:118,146,608...118,153,024
Ensembl chr 8:109,268,079...109,274,499
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 Annotator: match by term: RNASEH2B-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr15:40,717,252...40,770,826
Ensembl chr15:36,541,218...36,584,118
JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn3 actinin alpha 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,588,473...211,604,401
Ensembl chr 1:202,159,082...202,175,012
JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,709,238...210,715,258
Ensembl chr 1:201,279,851...201,283,175
JBrowse link
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,837,473...210,848,691
Ensembl chr 1:201,407,288...201,419,122
JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family, member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,574,545...210,605,188
Ensembl chr 1:201,145,309...201,163,921
JBrowse link
G Aldh3b2 aldehyde dehydrogenase 3 family, member B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,679,749...210,694,187
Ensembl chr 1:201,253,157...201,264,705
Ensembl chr 1:201,253,157...201,264,705
JBrowse link
G Aldh3b3 aldehyde dehydrogenase 3 family, member B3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,617,090...210,629,886
Ensembl chr 1:201,187,962...201,250,204
JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,995,012...211,007,430
Ensembl chr 1:201,565,712...201,577,933
JBrowse link
G Ano1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,180,755...209,329,413
Ensembl chr 1:199,751,439...199,900,069
JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,305,612...212,309,643
Ensembl chr 1:202,876,272...202,880,289
JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:202,343,240...202,346,065
JBrowse link
G Banf1 barrier to autointegration nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,101,523...212,103,568
Ensembl chr 1:202,671,305...202,674,188
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:202,186,125...202,204,086
JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,163,892...212,166,146
Ensembl chr 1:202,734,555...202,736,804
JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,775,142...211,784,411
Ensembl chr 1:202,345,704...202,355,028
JBrowse link
G C1h11orf24 similar to human chromosome 11 open reading frame 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,374,426...210,383,191
Ensembl chr 1:200,945,180...200,962,585
JBrowse link
G C1h11orf86 similar to human chromosome 11 open reading frame 86 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,213,429...211,225,624
Ensembl chr 1:201,784,009...201,785,916
JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,804,111...210,809,941
Ensembl chr 1:201,375,276...201,380,469
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:201,428,672...201,433,172
JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,705,219...212,736,134
Ensembl chr 1:203,277,344...203,300,177
JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,888,520...210,899,311
Ensembl chr 1:201,459,076...201,469,845
JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,072,371...212,081,179
Ensembl chr 1:202,643,038...202,651,824
JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,192,979...212,193,994
Ensembl chr 1:202,763,631...202,764,703
JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,564,419...211,567,115
Ensembl chr 1:202,134,963...202,138,337
JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,543,192...211,564,354
Ensembl chr 1:202,113,804...202,134,915
JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,803,052...211,805,616
Ensembl chr 1:202,373,676...202,376,240
JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,631,317...212,640,231
Ensembl chr 1:203,201,873...203,210,897
JBrowse link
G Cdk2ap2 cyclin-dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,819,155...210,822,604
Ensembl chr 1:201,391,466...201,393,137
JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,506,069...210,554,753
Ensembl chr 1:201,076,860...201,125,516
JBrowse link
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:201,507,859...201,517,605
JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,828,791...211,834,474
Ensembl chr 1:202,399,419...202,405,089
JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,872,437...210,877,876
Ensembl chr 1:201,443,014...201,448,416
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,084,676...212,086,384
Ensembl chr 1:202,655,322...202,657,030
JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,582,169...211,587,917
Ensembl chr 1:202,152,728...202,158,525
JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,201,904...212,208,028
Ensembl chr 1:202,772,572...202,775,964
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:203,183,686...203,198,983
JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,634,067...211,657,898
Ensembl chr 1:202,204,693...202,228,541
JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,161,107...212,163,833
Ensembl chr 1:202,731,788...202,734,425
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:202,781,665...202,789,414
JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,423,444...212,444,357
Ensembl chr 1:202,994,118...203,014,270
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,103,715...212,109,015
Ensembl chr 1:202,674,185...202,679,658
JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,169,245...209,175,423
Ensembl chr 1:199,739,994...199,745,653
JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,445,101...212,447,164
Ensembl chr 1:203,015,773...203,017,367
JBrowse link
G Fgf19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,485,813...209,490,267
Ensembl chr 1:200,056,644...200,060,287
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:200,001,261...200,005,187
JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,453,229...209,457,085
Ensembl chr 1:200,024,056...200,025,466
JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,197,216...212,201,732
Ensembl chr 1:202,768,078...202,772,399
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:202,754,529...202,764,930
JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,572,534...212,593,181
Ensembl chr 1:203,143,218...203,163,870
JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,079,709...210,084,572
Ensembl chr 1:200,650,439...200,654,959
JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,022,989...212,032,802
Ensembl chr 1:202,593,692...202,603,445
JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,865,338...210,867,833
Ensembl chr 1:201,435,884...201,437,443
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,010,259...211,031,013
Ensembl chr 1:201,581,480...201,601,582
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,419,555...212,422,173
Ensembl chr 1:202,990,198...202,992,872
JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,041,859...211,125,749
Ensembl chr 1:201,612,453...201,680,787
JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,843,927...211,854,160
Ensembl chr 1:202,414,557...202,424,672
JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,429,672...210,479,042
Ensembl chr 1:201,000,444...201,049,819
JBrowse link
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,317,980...211,321,272
Ensembl chr 1:201,888,569...201,891,861
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Lto1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,502,900...209,510,237
Ensembl chr 1:200,074,253...200,088,061
JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,404,685...212,417,986
Ensembl chr 1:202,975,353...202,988,652
JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,908,487...209,917,183
Ensembl chr 1:200,485,189...200,486,148
JBrowse link
G Mrgprf MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,893,384...209,902,852
Ensembl chr 1:200,463,973...200,473,660
JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,693,807...211,696,667
Ensembl chr 1:202,264,471...202,267,756
JBrowse link
G Mrpl21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,958,693...209,987,393
Ensembl chr 1:200,529,416...200,537,896
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,219,793...212,225,214
Ensembl chr 1:202,790,466...202,795,843
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,569,823...210,573,707
Ensembl chr 1:201,140,585...201,144,511
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:201,299,985...201,305,466
JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,710,640...211,728,038
Ensembl chr 1:202,281,958...202,286,724
JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,723,209...210,724,717
Ensembl chr 1:201,292,619...201,295,224
JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,284,601...212,296,106
Ensembl chr 1:202,855,265...202,866,831
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,866,872...211,998,828
Ensembl chr 1:202,437,505...202,569,473
JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:201,804,267...201,898,380
JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,380,657...212,402,967
Ensembl chr 1:202,951,322...202,976,561
JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,659,416...211,672,280
Ensembl chr 1:202,232,228...202,242,857
JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,823,568...210,836,989
Ensembl chr 1:201,394,149...201,407,522
JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,656,500...212,680,667
Ensembl chr 1:203,203,388...203,251,348
JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,956,110...210,957,863
Ensembl chr 1:201,526,665...201,528,401
JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,914,576...210,918,193
Ensembl chr 1:201,485,085...201,497,327
JBrowse link
G Ppp6r3 protein phosphatase 6, regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,122,394...210,236,839
Ensembl chr 1:200,693,440...200,807,548
JBrowse link
G Ptprcap protein tyrosine phosphatase, receptor type, C-associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,878,593...210,880,752
Ensembl chr 1:201,449,113...201,451,288
JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,835,133...211,843,408
Ensembl chr 1:202,405,759...202,413,868
Ensembl chr  X:202,405,759...202,413,868
JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,917,970...210,983,038
Ensembl chr 1:201,487,136...201,553,608
JBrowse link
G Rbm14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,476,298...211,535,077
Ensembl chr 1:202,078,287...202,105,665
Ensembl chr 1:202,078,287...202,105,665
JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,507,845...211,516,907
Ensembl chr 1:202,085,279...202,105,380
JBrowse link
G Rbm4b RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,477,337...211,487,428
Ensembl chr 1:202,047,927...202,058,020
JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,328,769...211,345,944
Ensembl chr 1:201,899,358...201,902,484
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,138,126...211,153,953
Ensembl chr 1:201,708,699...201,722,632
JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,785,107...211,789,755
Ensembl chr 1:202,355,890...202,362,729
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr 1:212,323,916...212,325,011
Ensembl chr 1:202,894,643...202,897,516
JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,880,824...210,887,556
Ensembl chr 1:201,451,265...201,458,078
JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,119,824...212,128,517
Ensembl chr 1:202,690,459...202,699,136
JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,475,198...212,489,285
Ensembl chr 1:203,045,741...203,059,533
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,999,777...212,040,686
Ensembl chr 1:202,570,423...202,590,759
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,367,867...212,379,952
Ensembl chr 1:202,938,580...202,950,591
JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,595,536...212,603,786
Ensembl chr 1:203,166,683...203,174,473
JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,756,588...211,764,561
Ensembl chr 1:202,327,354...202,335,171
JBrowse link
G Snx32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,231,716...212,248,127
Ensembl chr 1:202,802,394...202,818,743
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:202,002,970...202,044,283
JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,986,604...210,994,975
Ensembl chr 1:201,557,169...201,564,753
JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,158,745...211,189,780
Ensembl chr 1:201,730,371...201,759,609
JBrowse link
G Tbc1d10c TBC1 domain family, member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,906,621...210,913,649
Ensembl chr 1:201,477,157...201,564,920
JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,714,992...210,722,089
Ensembl chr 1:201,279,829...201,292,601
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:201,127,034...201,138,742
JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,059,414...210,077,704
Ensembl chr 1:200,630,144...200,648,433
JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,607,772...212,612,683
Ensembl chr 1:203,178,460...203,181,272
JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,848,761...210,857,735
Ensembl chr 1:201,419,264...201,431,411
JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,816,773...211,821,558
Ensembl chr 1:202,388,240...202,392,182
JBrowse link
G Top6bl TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,331,973...211,419,015 JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:209,845,827...209,875,561
Ensembl chr 1:200,416,540...200,446,236
JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:212,129,921...212,144,784
Ensembl chr 1:202,700,578...202,714,798
JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:210,596,639...210,607,579
Ensembl chr 1:201,152,693...201,178,338
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,823,921...211,828,437
Ensembl chr 1:202,394,897...202,399,427
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:211,605,163...211,612,267
Ensembl chr 1:202,175,807...202,182,880
JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:212,447,010...212,448,793
Ensembl chr 1:203,017,682...203,019,465
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,047,191...40,053,216
Ensembl chr19:23,141,602...23,148,339
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,231,061...40,245,329
Ensembl chr19:23,334,164...23,339,589
JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,987,328...39,991,418
Ensembl chr19:23,082,448...23,086,881
JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,149,505...40,152,225
Ensembl chr19:23,244,664...23,247,376
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,196,255...40,205,830
Ensembl chr19:23,268,869...23,300,980
JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,995,408...40,002,312
Ensembl chr19:23,090,534...23,097,439
JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,225,503...40,228,052
Ensembl chr19:23,320,159...23,323,236
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,168,038...40,174,536
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,034,675...40,043,064
Ensembl chr19:23,130,109...23,138,193
JBrowse link
G Hook2 hook microtubule-tethering protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,056,732...40,075,027
Ensembl chr19:23,151,870...23,164,181
JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,399,373...40,400,897
Ensembl chr19:23,494,184...23,499,211
JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035
JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,155,476...40,158,651
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,356,967...40,359,834
Ensembl chr19:23,452,140...23,455,007
JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,959,964...39,979,299
Ensembl chr19:23,055,097...23,074,389
JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,121,271...40,149,073
Ensembl chr19:23,207,991...23,244,235
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,373,436...40,391,351
Ensembl chr19:23,468,419...23,486,528
JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,259,873...40,356,966
Ensembl chr19:23,355,498...23,448,265
JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,085,788...40,091,083
Ensembl chr19:23,180,930...23,186,194
JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,219,235...40,225,543
Ensembl chr19:23,314,797...23,320,695
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 More... NCBI chr19:40,091,206...40,100,904
Ensembl chr19:23,186,383...23,196,041
JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,102,364...40,112,791
Ensembl chr19:23,197,506...23,204,438
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,173,713...40,195,959
Ensembl chr19:23,268,869...23,300,980
JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,004,271...40,024,565
Ensembl chr19:23,099,401...23,119,596
JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,029,952...40,033,368
Ensembl chr19:23,125,083...23,128,510
JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,361,583...40,374,971
Ensembl chr19:23,456,756...23,466,956
JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,981,890...39,987,443
Ensembl chr19:23,077,010...23,082,563
JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,980,247...39,981,619
Ensembl chr19:23,075,376...23,076,894
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blcap BLCAP, apoptosis inducing factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,642,676...166,656,924
Ensembl chr 3:146,222,240...146,232,909
JBrowse link
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,807,899...166,968,932
Ensembl chr 3:146,387,889...146,548,987
JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,412,763...166,432,519
Ensembl chr 3:145,992,763...146,011,889
JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,455,067...166,484,652
Ensembl chr 3:146,035,066...146,064,676
JBrowse link
G Mroh8 maestro heat-like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,294,008...166,362,460
Ensembl chr 3:145,873,996...145,942,319
JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,646,373...166,648,845
Ensembl chr 3:146,226,407...146,228,834
JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,226,187...166,289,862
Ensembl chr 3:145,807,095...145,869,330
JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,361,955...166,409,272
Ensembl chr 3:145,941,839...145,989,543
JBrowse link
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
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:145,761,558...145,794,386
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:166,162,315...166,178,881
Ensembl chr 3:145,743,619...145,758,741
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 OMIM
ClinVar
PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:175,138,403...175,178,282
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 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm11 LSM11, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar
PMID:33230297 NCBI chr10:30,869,168...30,887,275
Ensembl chr10:30,370,727...30,385,944
JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr 4:159,237,562...159,239,223 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 chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:27,130,934...27,209,672
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
RGD
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 7:10,610,149...10,620,411
Ensembl chr 7:9,959,576...9,969,791
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:133,308,938...133,322,296
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 chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
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 chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
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 chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
JBrowse link
central nervous system vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphism:HLA-A69 RGD PMID:28734234 RGD:329961297 NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563
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 2:53,334,071...53,358,709
Ensembl chr 2:51,601,331...51,625,997
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:sciatic nerve (mouse) RGD PMID:19050296 RGD:4890012 NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:sural nerve RGD PMID:10408538 RGD:13204856 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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 chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Nefh neurofilament heavy chain ISO protein:decreased expression:spinal cord: RGD PMID:12742652 RGD:27226817 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
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:104,933,921...104,993,317
Ensembl chr  X:100,185,767...100,201,032
JBrowse link
G Serpine1 serpin family E member 1 ISO RGD PMID:17983428 RGD:13208507 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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
ISS
DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myasthenia
OMIM:254210
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 More... RGD:1600831 NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:21948486 PMID:25741868 PMID:28492532 NCBI chr16:7,719,953...7,722,814 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP RGD PMID:15878627 RGD:1559178 NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:40,872,856...40,920,639
JBrowse link
G Adam8 ADAM metallopeptidase domain 8 ISO RGD PMID:9670863 RGD:2325244 NCBI chr 1:204,206,206...204,218,988
Ensembl chr 1:194,770,060...194,788,801
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:altered expression:spinal cord (rat) RGD PMID:19246105 RGD:2313022 NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Akap12 A-kinase anchoring protein 12 IEP mRNA,protein:increased expression:spinal cord RGD PMID:20155814 RGD:14348972 NCBI chr 1:43,135,515...43,225,245
Ensembl chr 1:40,730,123...40,819,886
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:15328042 RGD:5509618 NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,060,412...55,068,874
JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 severity ISO RGD PMID:28119027 RGD:14392778 NCBI chr 7:130,270,639...130,273,735
Ensembl chr 7:128,390,412...128,394,695
JBrowse link
G Anxa1 annexin A1 IEP protein:increased expression:brain, astrocyte, macrophage RGD PMID:9472682 RGD:2306942 NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Apoe apolipoprotein E IEP RGD PMID:28578430 RGD:13703134 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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 chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G B2m beta-2 microglobulin ISO RGD PMID:15837577 RGD:6482690 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:astrocyte RGD PMID:25216636 RGD:14390079 NCBI chr18:12,233,350...12,290,204
Ensembl chr18:11,958,390...12,015,247
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP RGD PMID:23212569 RGD:10059360 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G C3 complement C3 IEP protein:increased expression:cerebrospinal fluid RGD PMID:22320401 RGD:7175513 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C6 complement C6 severity IAGP RGD PMID:11970970 RGD:625607 NCBI chr 2:55,573,596...55,648,857
Ensembl chr 2:53,851,985...53,921,275
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B IEP RGD PMID:11353727 RGD:1580151 NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:7,380,922...7,546,091
JBrowse link
G Calca calcitonin-related polypeptide alpha no_association ISO RGD PMID:19563774 RGD:5684360 NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105
JBrowse link
G Casp3 caspase 3 IEP protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 IEP protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 IEP protein:increased expression:spinal cord RGD PMID:18521931 RGD:2311436 Ensembl chr 5:154,109,046...154,126,626 JBrowse link
G Cav3 caveolin 3 onset IEP Protein:increased expression:spinal cord, astrocyte RGD PMID:15925413 RGD:1582168 NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137
JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr11:62,058,829...62,225,904
Ensembl chr11:48,592,703...48,756,839
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 IEP mRNA:decreased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,128,331...67,131,159
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP mRNA:increased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,028,328...67,032,926
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 chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IEP mRNA:increased expression:spinal cord RGD PMID:17666800 RGD:2307114 NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938
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 chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 IEP
IMP
RGD PMID:14655765 PMID:14512166 RGD:5688165, RGD:5688167 NCBI chr 8:132,433,711...132,439,266 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP mRNA:increased expression:spinal cord RGD PMID:9655467 RGD:632391 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:15034073 RGD:6893394 NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990
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 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd28 Cd28 molecule IMP RGD PMID:16061730 RGD:2307203 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
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 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191
JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:9379015 RGD:6902906 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030
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 chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator IAGP RGD PMID:15821736 RGD:1358146 NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440
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 chr10:86,011,504...86,018,063
Ensembl chr10:85,511,160...85,517,720
JBrowse link
G Comt catechol-O-methyltransferase treatment ISO RGD PMID:25242632 RGD:13450949 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Cpb2 carboxypeptidase B2 IEP RGD PMID:22768796 RGD:7243111 NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556
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 8:66,160,942...66,195,987
Ensembl chr 8:57,264,962...57,300,010
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:9379015 RGD:6902906 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctsc cathepsin C IEP RGD PMID:843913 RGD:1599653 NCBI chr 1:151,440,860...151,472,430
Ensembl chr 1:142,028,392...142,060,387
JBrowse link
G Ctss cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:16053521 RGD:4891973 NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP
IMP
RGD PMID:16053521 PMID:24706865 RGD:4891973, RGD:9491767 NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:19616545 RGD:7257694 NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IMP RGD PMID:21038468 RGD:5135506 NCBI chr  X:70,884,293...70,886,944
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Dab2 DAB adaptor protein 2 disease_progression IEP RGD PMID:21890121 RGD:7243155 NCBI chr 2:57,241,947...57,294,893
Ensembl chr 2:55,514,700...55,567,476
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:24676147 RGD:150520045 NCBI chr 6:134,192,491...134,199,779
Ensembl chr 6:128,410,316...128,417,522
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr 1:64,985,161...64,993,274
Ensembl chr 1:56,312,066...56,320,179
JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:21813770 RGD:155663662 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO RGD PMID:15306813 RGD:7775013 NCBI chr13:98,145,317...98,183,304
Ensembl chr13:95,614,292...95,651,716
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 disease_progression IEP RGD PMID:19524108 RGD:9685491 NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:239,425,430...239,552,317
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:18382691 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,330,654...91,421,029
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:21565615 PMID:21182085 RGD:5508732, RGD:5508735 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Faslg Fas ligand treatment ISO RGD PMID:10944459 RGD:12903984 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:12576552 RGD:5508383 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
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 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:18721816 RGD:10402153 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561
JBrowse link
G Ghrh growth hormone releasing hormone resistance ISO RGD PMID:21846799 RGD:5687168 NCBI chr 3:166,412,763...166,432,519
Ensembl chr 3:145,992,763...146,011,889
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide treatment IDA RGD PMID:19620309 RGD:12905041 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621
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 chr10:44,462,203...44,470,924
Ensembl chr10:43,962,642...43,970,467
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO mRNA, protein:decreased expression:spinal cord RGD PMID:9145307 RGD:6484657 NCBI chr16:9,646,569...9,680,215
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Gpx3 glutathione peroxidase 3 IEP RGD PMID:22320401 RGD:7175513 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
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 chr10:31,383,801...31,415,334
Ensembl chr10:30,882,606...30,909,137
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO
IMP
RGD PMID:17085013 PMID:14691063 RGD:5508469, RGD:5508476 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Ifnb1 interferon beta 1 ameliorates
treatment
exacerbates
ISO
IDA
IMP
RGD PMID:9578846 PMID:8955226 PMID:19380780 PMID:18997868 RGD:401854237, RGD:401854247, RGD:401854246, RGD:5147399 NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523
JBrowse link
G Ifng interferon gamma disease_progression
treatment
ISO RGD PMID:15661899 PMID:22896638 RGD:7987912, RGD:10755692 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:7541143 RGD:6483353 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il10 interleukin 10 treatment IDA RGD PMID:23872438 RGD:7364993 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha IEP RGD PMID:12620647 RGD:2316323 NCBI chr 8:54,459,754...54,474,786
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
G Il12a interleukin 12A ISO RGD PMID:12471147 RGD:724447 NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:152,965,769...152,972,734
JBrowse link
G Il12b interleukin 12B IEP mRNA, protein:increased expression:lymph node RGD PMID:19233473 RGD:4831840 NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il13 interleukin 13 severity ISO RGD PMID:18250480 PMID:7523520 RGD:5684366, RGD:5684367 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il16 interleukin 16 IMP RGD PMID:17641011 RGD:5024940 NCBI chr 1:147,026,852...147,127,177
Ensembl chr 1:137,617,944...137,718,130
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 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 IMP
IEP
mRNA:increased expression:spinal cord RGD PMID:9834127 PMID:9846824 RGD:4889543, RGD:4889542 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il18r1 interleukin 18 receptor 1 IEP mRNA:increased expression:lymph node RGD PMID:19269041 RGD:2311529 NCBI chr 9:50,223,274...50,257,370
Ensembl chr 9:42,727,869...42,760,715
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:7593560 RGD:8551836 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il21 interleukin 21 IDA RGD PMID:18997868 RGD:5147399 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il21r interleukin 21 receptor no_association
disease_progression
ISO RGD PMID:18546146 PMID:18353312 RGD:6892939, RGD:6892940 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Il22 interleukin 22 IEP RGD PMID:19269041 RGD:2311529 NCBI chr 7:55,687,061...55,691,526
Ensembl chr 7:53,801,206...53,806,186
JBrowse link
G Il27 interleukin 27 ISO protein:decreased expression:blood serum (mouse) RGD PMID:33403844 RGD:126790527 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IEP RGD PMID:19269041 RGD:2311529 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Il4 interleukin 4 treatment ISO
IEP
RGD PMID:18239607 PMID:1383385 RGD:7829778, RGD:8142395 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 IEP
ISO
protein:increased expression:oligodendrocytes (rat) RGD PMID:9358769 PMID:23322593 RGD:2307412, RGD:12791289 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Jak3 Janus kinase 3 treatment IDA RGD PMID:25012120 RGD:11533939 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:19233483 RGD:5684404 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO RGD PMID:25972476 RGD:12910744 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO protein:increased expression:cerebellum, spinal cord RGD PMID:19299462 RGD:13800552 NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:63,380,356...63,460,910
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 chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:15494405 RGD:1358431 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129
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
RGD
PMID:11501064 PMID:15159442 PMID:17884951 PMID:24070732 PMID:16285900 More... RGD:7349334, RGD:30296670 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404
JBrowse link
G Mdk midkine IEP RGD PMID:9814819 RGD:9831448 NCBI chr 3:98,356,789...98,358,960
Ensembl chr 3:77,901,158...77,903,130
JBrowse link
G Mir146a microRNA 146a ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:22660635 RGD:155663483 NCBI chr10:28,349,996...28,350,090
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir23b microRNA 23b treatment ISO mRNA:decreased expression:spinal cord (mouse) RGD PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483 NCBI chr17:1,819,386...1,819,482
Ensembl chr17:1,813,667...1,813,763
JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA RGD PMID:19922364 RGD:2325703 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp7 matrix metallopeptidase 7 IEP RGD PMID:9549496 RGD:8547909 NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
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 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO RGD PMID:10623862 RGD:27226694 NCBI chr 8:128,747,117...128,777,238
Ensembl chr 8:119,869,626...119,899,563
JBrowse link
G Mog myelin oligodendrocyte glycoprotein IDA
ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12904460 PMID:16931536 PMID:17654737 PMID:17728465 PMID:18566399 More... RGD:9685372, RGD:9685375, RGD:9685375, RGD:9685373 NCBI chr20:1,514,110...1,528,716
Ensembl chr20:1,513,239...1,523,474
JBrowse link
G Mt1 metallothionein 1 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:10,831,959...10,832,975
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
Ensembl chr  X:10,826,032...10,827,049
JBrowse link
G Mt2 metallothionein 2 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Mt3 metallothionein 3 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:10,854,676...10,856,080
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:decreased expression:hippocampus RGD PMID:17064783 RGD:40924670 NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Nefl neurofilament light chain IEP protein:increased expression:cerebrospinal fluid, spinal cord RGD PMID:16182933 RGD:2299007 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19910389 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Ngf nerve growth factor IEP protein, mRNA:increased expression:thalamus and cortex, CNS RGD PMID:8866783 RGD:5508386 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
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 chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:21857957 RGD:5509069 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO RGD PMID:21266776 RGD:6480877 NCBI chr 1:104,178,483...104,183,863
Ensembl chr 1:95,041,967...95,047,377
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:17322387 RGD:4892331 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP mRNA:increased expression:brain subventricular zone: RGD PMID:15589512 RGD:5684777 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Olig1 oligodendrocyte transcription factor 1 treatment ISO RGD PMID:24941845 RGD:40902822 NCBI chr11:44,000,450...44,002,592
Ensembl chr11:30,514,379...30,516,521
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 treatment ISO
IEP
RGD PMID:24941845 PMID:29682587 RGD:40902822, RGD:40902863 NCBI chr11:43,961,585...43,964,961
Ensembl chr11:30,475,398...30,480,152
JBrowse link
G Pdcd1 programmed cell death 1 susceptibility ISO RGD PMID:24648472 RGD:40818258 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Pdgfb platelet derived growth factor subunit B treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:20303183 RGD:6482686 NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043
JBrowse link
G Plp1 proteolipid protein 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21068375 PMID:24941845 RGD:40902822 NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:100,185,767...100,201,032
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261635 NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Prf1 perforin 1 ISO RGD PMID:20708278 RGD:6482806 NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 severity ISO RGD PMID:19486896 RGD:6484540 NCBI chr 2:55,967,766...56,003,450
Ensembl chr 2:54,240,137...54,275,978
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 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586
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 chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptn pleiotrophin IEP mRNA:increased expression:spinal cord (rat) RGD PMID:9814819 RGD:9831448 NCBI chr 4:66,260,764...66,342,614
Ensembl chr 4:65,293,734...65,375,456
JBrowse link
G Qki QKI, KH domain containing RNA binding IEP RGD PMID:22740327 RGD:10045997 NCBI chr 1:52,935,357...53,047,338
Ensembl chr 1:50,387,698...50,498,831
JBrowse link
G Rangrf RAN guanine nucleotide release factor IDA RGD PMID:8557821 RGD:6771380 NCBI chr10:54,176,325...54,177,696
Ensembl chr10:53,677,467...53,678,840
JBrowse link
G Rhoa ras homolog family member A severity IEP protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746
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 chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:8676084 RGD:5490166 NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,512,911...4,518,455
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO RGD PMID:16194572 RGD:5147647 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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 chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Shh sonic hedgehog signaling molecule IEP
ISO
RGD PMID:15892298 PMID:18991353 RGD:12801423, RGD:12801440 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment IDA RGD PMID:22436018 RGD:9999395 NCBI chr 3:173,501,573...173,503,822
Ensembl chr 3:153,082,369...153,084,453
JBrowse link
G Sncb synuclein, beta IDA RGD PMID:12496452 RGD:730073 NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,846,802...9,855,012
JBrowse link
G Srsf9 serine and arginine rich splicing factor 9 treatment ISO RGD PMID:20616573 RGD:11040805 NCBI chr12:46,938,948...46,945,213
Ensembl chr12:41,275,687...41,284,499
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22066025 PMID:17878325 RGD:6483041, RGD:6892946 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:11240014 RGD:7207888 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA, protein:increased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfb2 transforming growth factor, beta 2 IEP mRNA, protein:decreased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 IEP protein:increased expression:spinal cord RGD PMID:15878627 RGD:1559178 NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839
JBrowse link
G Tlr2 toll-like receptor 2 treatment IEP protein:increased expression:spinal cord RGD PMID:18644848 PMID:33358978 RGD:2312575, RGD:597538508 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 treatment IEP protein:increased expression:spinal cord RGD PMID:18644848 PMID:33358978 RGD:2312575, RGD:597538508 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:11421579 RGD:12904661 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IDA RGD PMID:12196270 RGD:1580348 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vdr vitamin D receptor treatment ISO RGD PMID:21318047 PMID:21287548 RGD:8158064, RGD:13210791 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20978211 RGD:5685386 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr14:84,604,623...84,609,707
Ensembl chr14:80,390,643...80,395,693
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 chr13:67,454,379...67,463,288
Ensembl chr13:64,887,136...64,913,410
JBrowse link
G C3 complement C3 ISO
IEP
RGD PMID:17962462 PMID:147324 RGD:7401263, RGD:11040804 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C6 complement C6 susceptibility IAGP RGD PMID:17034580 RGD:1600670 NCBI chr 2:55,573,596...55,648,857
Ensembl chr 2:53,851,985...53,921,275
JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:11359850 RGD:8547800 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cfb complement factor B treatment IMP RGD PMID:25355917 RGD:11041161 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit treatment ISO RGD PMID:10606626 RGD:704386 NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:quadriceps (rat) RGD PMID:16365386 RGD:2315588 NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP
IEP
RGD PMID:19232748 PMID:15843529 RGD:2311364, RGD:1598501 NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 IEP RGD PMID:15843529 RGD:1598501 NCBI chr14:16,007,166...16,012,077
Ensembl chr14:15,722,908...15,728,435
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:70,884,293...70,886,944
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Il15 interleukin 15 IEP protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820
JBrowse link
G Il23r interleukin 23 receptor IEP mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IDA RGD PMID:18250419 RGD:2325986 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Il4r interleukin 4 receptor IEP protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Musk muscle associated receptor tyrosine kinase IDA RGD PMID:17081697 RGD:2317084 NCBI chr 5:77,853,560...77,967,653
Ensembl chr 5:73,058,121...73,171,932
JBrowse link
G Myog myogenin IEP RGD PMID:1312030 RGD:9686077 NCBI chr13:48,297,476...48,300,065
Ensembl chr13:45,745,436...45,748,039
JBrowse link
G Rapsn receptor-associated protein of the synapse IEP protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chr 3:97,470,891...97,480,196
Ensembl chr 3:76,983,471...77,024,373
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 1:204,206,206...204,218,988
Ensembl chr 1:194,770,060...194,788,801
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:spinal cord (rat) RGD PMID:15710454 RGD:2313042 NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Anxa1 annexin A1 IEP protein:increased expression:sciatic nerve RGD PMID:10603033 RGD:2306914 NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G App amyloid beta precursor protein treatment IDA RGD PMID:28446186 RGD:13782060 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Cav1 caveolin 1 IEP protein:increased phosphorylation:sciatic nerve RGD PMID:17234162 RGD:2289125 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
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 8:132,433,711...132,439,266 JBrowse link
G Cd14 CD14 molecule severity IEP RGD PMID:19162137 RGD:2312712 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cd28 Cd28 molecule IMP RGD PMID:12864982 RGD:2307204 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cd40 CD40 molecule IEP RGD PMID:17188497 RGD:5491181 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand IEP RGD PMID:17188497 RGD:5491181 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd59b CD59b molecule IEP protein:increased expression:Schwann cell (rat) RGD PMID:10450801 RGD:1600494 NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:18448252 RGD:4891968 NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP RGD PMID:18448252 RGD:4891968 NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Dcc DCC netrin 1 receptor IEP RGD PMID:16337279 RGD:2314374 NCBI chr18:67,144,272...68,248,159
Ensembl chr18:64,873,898...65,972,740
JBrowse link
G Dhodh dihydroorotate dehydrogenase treatment IMP RGD PMID:11522581 RGD:11040446 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:37,558,177...37,591,654
JBrowse link
G Epas1 endothelial PAS domain protein 1 IEP RGD PMID:23603807 RGD:10395381 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Epo erythropoietin IEP RGD PMID:20361946 RGD:10400894 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Foxp3 forkhead box P3 IEP protein:decreased expression:sciatic nerve RGD PMID:30464413 RGD:38549576 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838
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 chr10:31,383,801...31,415,334
Ensembl chr10:30,882,606...30,909,137
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP RGD PMID:23603807 RGD:10395381 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase disease_progression IMP RGD PMID:17286627 RGD:5508466 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Ifnb1 interferon beta 1 ameliorates IDA RGD PMID:10494101 RGD:401854240 NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523
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 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il1b interleukin 1 beta treatment IEP RGD PMID:18400050 RGD:7401218 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il5 interleukin 5 treatment IDA RGD PMID:22310911 RGD:11522768 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Mmp7 matrix metallopeptidase 7 IEP RGD PMID:9546322 RGD:9685357 NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:9546322 RGD:9685357 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:nerve root, leukocyte, Schwann cell (rat) RGD PMID:15144861 RGD:1580265 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP protein:increased expression: RGD PMID:12916703 RGD:5688236 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression: RGD PMID:12916703 RGD:5688236 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Spp1 secreted phosphoprotein 1 IDA RGD PMID:15531104 RGD:1581323 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Tlr2 toll-like receptor 2 severity IEP RGD PMID:19162137 RGD:2312712 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 IEP mRNA:increased expression:multiple tissues RGD PMID:18434754 RGD:2312677 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr9 toll-like receptor 9 IEP mRNA:increased expression:multiple tissues RGD PMID:18434754 RGD:2312677 NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:18400050 RGD:7401218 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ameliorates IDA
IEP
mRNA:increased expression:sciatic nerve,peripheral blood mononuclar cell RGD PMID:28260057 PMID:28260057 RGD:127284841, RGD:127284841 NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:12,763,819...12,779,203
JBrowse link
Graves ophthalmopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car1 carbonic anhydrase 1 ISO RGD PMID:26034078 RGD:408425976 NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:86,861,897...86,872,208
JBrowse link
G Cat catalase treatment ISO protein:decreased activity:blood:
protein:increased activity:plasma:
RGD PMID:20394549 PMID:15158621 RGD:9071200, RGD:9086875 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 severity
no_association
ISO associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)
protein:increased expression:serum:
RGD PMID:16893393 PMID:19734241 PMID:22663548 RGD:7421511, RGD:7421523, RGD:7421521 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression,increased excretion:orbital tissue: RGD PMID:22159761 RGD:8548854 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum
RGD PMID:21067483 PMID:11753760 RGD:7364859, RGD:7365083 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity
susceptibility
ISO protein:increased expression:serum (human)
DNA:snp:exon:11100 C>T (rs315952) (human)
RGD PMID:12186498 PMID:19702713 RGD:7387296, RGD:8549808 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il23r interleukin 23 receptor no_association
susceptibility
ISO DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)
RGD PMID:22663548 PMID:18073300 RGD:7421521, RGD:8549554 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Kif1a kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) RGD PMID:17608818 RGD:7829763 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:253,218,968...253,232,101
Ensembl chr 1:243,269,747...243,282,562
JBrowse link
G Serpine1 serpin family E member 1 severity ISO associated with Graves Disease;protein:increased expression:tears (human) RGD PMID:22385289 RGD:8547756 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-863C>A (human)
RGD PMID:15219383 PMID:16191343 PMID:8444271 RGD:7365073, RGD:12904066, RGD:7794734 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tshr thyroid stimulating hormone receptor severity ISO DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:31705858 PMID:22673349 PMID:20237164 RGD:8548662, RGD:8548673 NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:110,341,581...110,474,538
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 chr20:10,635,775...10,650,709
Ensembl chr20:10,636,123...10,651,060
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18343991 RGD:5685658 NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO protein:increased expression:plasma (human) RGD PMID:12507779 RGD:8549645 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd86 CD86 molecule ISS OMIM:139393 MouseDO NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cst3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:11134381 RGD:5686395 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:11134381 RGD:5686395 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15623725 RGD:1600925 NCBI chr10:86,190,289...86,191,524
Ensembl chr10:85,689,465...85,691,210
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Guillain-Barre syndrome, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12402337 PMID:20516806 PMID:21149811 PMID:21252112 PMID:23965407 More... NCBI chr10:48,294,932...48,324,941
Ensembl chr10:47,795,709...47,825,714
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 chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:16289869 RGD:1626312 NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:7,380,922...7,546,091
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:214,996,180...215,012,136
Ensembl chr 1:205,567,220...205,582,356
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 gamma receptor 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha severity ISO RGD PMID:20559547 RGD:40886275 NCBI chr 1:255,838,129...255,849,680
Ensembl chr 1:245,896,775...245,908,330
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Selp selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845
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 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Acan aggrecan ISO protein:altered expression:central nervous system, plaque (human) RGD PMID:11764092 RGD:2315836 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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 chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen ISO protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Aim2 absent in melanoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr13:88,397,516...88,439,325
Ensembl chr13:85,866,284...85,906,975
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoc2 apolipoprotein C2 ISO RGD PMID:10335523 RGD:1358408 NCBI chr 1:88,457,397...88,462,365
Ensembl chr 1:79,329,428...79,334,476
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15048896 PMID:15118671 RGD:1331525 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G B4galt5 beta-1,4-galactosyltransferase 5 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr 3:176,437,073...176,453,001
Ensembl chr 3:156,018,053...156,070,074
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr18:12,233,350...12,290,204
Ensembl chr18:11,958,390...12,015,247
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:decreased expression:brain: RGD PMID:24270187 RGD:14394512 NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624
JBrowse link
G Bdnf brain-derived neurotrophic factor onset ISO protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:7,380,922...7,546,091
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Cav1 caveolin 1 ISO DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr11:62,058,829...62,225,904
Ensembl chr11:48,592,703...48,756,839
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 chr10:67,625,962...67,628,740
Ensembl chr10:67,128,331...67,131,159
JBrowse link
G Ccl12 C-C motif chemokine ligand 12 ISO DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human) RGD PMID:19865101 RGD:4145472 NCBI chr10:67,567,876...67,569,426
Ensembl chr10:67,070,230...67,071,780
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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 chr10:67,514,095...67,515,945
Ensembl chr10:67,016,446...67,018,303
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990
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
RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... RGD:1358460, RGD:8551829 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd109 CD109 molecule ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar NCBI chr 8:88,334,736...88,449,463
Ensembl chr 8:79,454,480...79,569,194
JBrowse link
G Cd24 CD24 molecule ISO RGD PMID:14657362 RGD:1358462 NCBI chr20:48,655,549...48,661,786
Ensembl chr20:47,073,512...47,079,662
JBrowse link
G Cd28 Cd28 molecule ISO DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
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
RGD
PMID:19525955 PMID:20634952 PMID:20190274 RGD:5490971, RGD:5490975 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21177319 RGD:6483460 NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445
JBrowse link
G Cd6 Cd6 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chr 1:216,867,767...216,906,642
Ensembl chr 1:207,442,877...207,481,634
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 chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cd96 CD96 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:68,164,926...68,239,266
Ensembl chr11:54,702,290...54,776,621
JBrowse link
G Cdk17 cyclin-dependent kinase 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 7:29,570,982...29,677,613
Ensembl chr 7:27,683,890...27,764,910
JBrowse link
G Cfh complement factor H no_association ISO RGD PMID:21618592 RGD:5684555 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
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 chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Cldn11 claudin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chr 2:114,136,234...114,149,539
Ensembl chr 2:112,207,745...112,221,050
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
RGD
PMID:18946483 PMID:19525955 PMID:21653641 RGD:5491175 NCBI chr10:5,434,725...5,631,246
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G Cmah cytidine monophospho-N-acetylneuraminic acid hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:40,985,129...41,070,317
Ensembl chr17:40,583,667...40,642,275
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr 6:48,802,150...48,813,652
Ensembl chr 6:43,073,796...43,085,183
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:19473295 PMID:18676363 RGD:6483339, RGD:6483346 NCBI chr10:86,011,504...86,018,063
Ensembl chr10:85,511,160...85,517,720
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Cntf ciliary neurotrophic factor onset ISO RGD PMID:11890844 RGD:1626112 NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:209,887,854...209,889,877
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Cst3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17086443 PMID:12589965 RGD:5686392, RGD:5686394 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822
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 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:17086443 PMID:11134381 RGD:5686392, RGD:5686395 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Ctsh cathepsin H ISO RGD PMID:17086443 RGD:5686392 NCBI chr 8:99,488,756...99,507,639
Ensembl chr 8:90,608,941...90,627,824
JBrowse link
G Ctsl cathepsin L ISO RGD PMID:17086443 RGD:5686392 NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: DISSEMINATED SCLEROSIS | ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:9837822 PMID:20926527 PMID:25741868 PMID:28492532 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:100,033,843...100,134,979
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:25790160 PMID:28492532 NCBI chr 9:43,631,716...44,025,535
Ensembl chr 9:36,135,284...36,529,615
JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:100,920,249...100,921,624 JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,330,654...91,421,029
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 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO DNA:repeat:promoter:g.-46(CA)11-15 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:31068361 PMID:11438180 RGD:1358622 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fcgr2a Fc gamma receptor 2A no_association ISO DNA:polymorphism: :p.H131R (human) RGD PMID:12864991 RGD:5147977 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr3a Fc gamma receptor 3A disease_progression ISO protein:increased expression:gamma-delta T cell RGD PMID:18155780 RGD:5508375 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
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:155,301,979...155,543,870
Ensembl chr  X:150,261,607...150,501,559
JBrowse link
G Gc GC, vitamin D binding protein susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebrospinal fluid
protein:increased expression:plasma:
DNA:SNPs:exon:p.T420K, D416E(human)
CTD
RGD
PMID:25590278 PMID:12137326 PMID:18807170 PMID:19324981 PMID:12044990 RGD:5509885, RGD:5509923, RGD:5509922, RGD:5509887 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251
JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chr 4:56,771,247...57,696,951
Ensembl chr 4:55,805,955...56,730,831
JBrowse link
G Grn granulin precursor ISO protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775
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 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstm3 glutathione S-transferase mu 3 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 2:198,295,442...198,300,742
Ensembl chr 2:195,607,289...195,612,475
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 2:198,219,769...198,222,732
Ensembl chr 2:195,531,495...195,534,553
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 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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 chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chr 5:165,717,456...165,753,158
Ensembl chr 5:160,438,697...160,470,171
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:14688203 RGD:5686803 NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:15,433,691...15,438,488
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 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifnb1 interferon beta 1 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 More... RGD:401854232 NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:repeat:intron: (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23517930 PMID:9818947 RGD:1358738 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:152,965,769...152,972,734
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 chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23517930 PMID:21455110 RGD:8698672 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il1b interleukin 1 beta severity ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:15210533 PMID:25458313 PMID:10025794 RGD:1358741 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:polymorphisms: : RGD PMID:20072140 PMID:21281812 RGD:6892695, RGD:6892963 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522
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 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602 PMID:19125193 RGD:2311526 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Il4 interleukin 4 onset ISO DNA:repeat:intron 3:allele B1 (human) RGD PMID:9184650 RGD:1358745 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:14712310 RGD:4890395 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980
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 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:94,234,766...94,280,075
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:21664875 More... NCBI chr 2:60,179,561...60,204,937
Ensembl chr 2:58,454,217...58,477,757
JBrowse link
G Irf5 interferon regulatory factor 5 susceptibility ISO DNA:SNPs: :rs3807306, rs4728142 (human) RGD PMID:25392335 PMID:20861862 RGD:11055911, RGD:40924643 NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267
JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:26467025 PMID:27001614 PMID:28008999 PMID:28492532 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Jag1 jagged canonical Notch ligand 1 disease_progression ISO RGD PMID:20805994 PMID:16934875 RGD:6482233, RGD:6482240 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:19,983,217...20,163,598
Ensembl chr17:19,777,266...19,955,690
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Kif1b kinesin family member 1B no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.1590+932T>C (rs10492972) (human)
CTD
RGD
PMID:18997785 PMID:20502484 PMID:18997785 RGD:12738463, RGD:12738462 NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778
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 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Klhl6 kelch-like family member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:94,475,262...94,514,653
Ensembl chr11:80,970,917...81,009,677
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:11802715 RGD:2314867 NCBI chr 1:103,415,411...103,422,682
Ensembl chr 1:94,280,340...94,286,121
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:28492532 NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:47,835,525...47,902,585
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 chr15:56,469,403...56,659,201
Ensembl chr15:50,071,947...50,249,657
JBrowse link
G Lrrc8c leucine rich repeat containing 8 VRAC subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr14:4,528,721...4,621,259
Ensembl chr14:4,227,832...4,315,249
JBrowse link
G Mag myelin-associated glycoprotein ISO RGD PMID:2419505 RGD:9685292 NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:86,148,228...86,163,656
JBrowse link
G Mbp myelin basic protein ISO RGD PMID:1691612 RGD:1358488 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404
JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 8:53,376,225...53,384,407
Ensembl chr 8:44,479,376...44,487,571
JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611
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 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO RGD PMID:17142321 RGD:9685374 NCBI chr20:1,514,110...1,528,716
Ensembl chr20:1,513,239...1,523,474
JBrowse link
G Mphosph9 M-phase phosphoprotein 9 susceptibility ISO DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chr12:37,936,442...38,007,053
Ensembl chr12:32,275,558...32,342,392
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 9:57,570,326...57,625,926
Ensembl chr 9:50,126,726...50,134,107
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO RGD PMID:18682780 RGD:6482255 NCBI chr13:86,186,867...86,203,914
Ensembl chr13:83,654,406...83,671,420
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
RGD
PMID:16738668 PMID:16738668 PMID:17376543 RGD:6767558, RGD:6767565 NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360
JBrowse link
G Nedd9 neural precursor cell expressed, developmentally down-regulated 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:23,495,531...23,673,780
Ensembl chr17:23,282,326...23,468,019
JBrowse link
G Nefh neurofilament heavy chain severity ISO RGD PMID:16764346 RGD:27226808 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human)
protein:increased expression:serum (human)
RGD PMID:31383792 PMID:33317883 RGD:127284875, RGD:127285024 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:reactive astrocytes, microglia/macrophages (human) RGD PMID:11829348 RGD:5508481 NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO mRNA:altered expression:peripheral blood mononuclear cell (human) RGD PMID:29100048 RGD:156420155 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:66,554,098...66,571,952
JBrowse link
G Notch4 notch receptor 4 ISO DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465
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 3:97,614,616...97,632,053
Ensembl chr 3:77,158,808...77,168,722
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chr12:39,550,531...39,594,984
Ensembl chr12:33,879,745...33,934,619
JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: PDCD1-related condition ClinVar PMID:25741868 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chr 1:9,411,412...9,680,648
Ensembl chr 1:7,597,927...7,860,289
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:26467025 PMID:27392081 PMID:28492532 PMID:29590070 NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:107,887,764...107,945,467
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 chr10:83,881,211...83,882,849
Ensembl chr10:83,384,923...83,386,556
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
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
RGD
PMID:19680139 PMID:20921521 PMID:22001684 RGD:6482805, RGD:6482820, RGD:6482817 NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:48,690,556...49,882,555
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:20174631 RGD:6483446 NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512
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 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO DNA:snp:exon:c.77C>G (human) RGD PMID:11101853 RGD:1358566 NCBI chr13:52,147,717...52,259,810
Ensembl chr13:49,596,193...49,708,692
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chr14:61,551,366...61,736,220
Ensembl chr14:57,338,507...57,523,353
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 1:136,538,782...136,582,763
Ensembl chr 1:127,128,934...127,172,918
JBrowse link
G Rhoa ras homolog family member A ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 7:69,310,947...69,350,567
Ensembl chr 7:67,425,837...67,465,222
JBrowse link
G Rnf217 ring finger protein 217 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar NCBI chr 1:27,835,741...27,927,805
Ensembl chr 1:26,015,728...26,108,736
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human) RGD PMID:21741664 RGD:5147555 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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
RGD
PMID:21741664 PMID:21908482 PMID:20463743 RGD:5147555, RGD:7421588, RGD:5147658 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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
RGD
PMID:17660530 PMID:19834503 PMID:10527398 RGD:5490202, RGD:5490204 NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,512,911...4,518,455
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility
onset
ISO DNA:polymorphism: :HLA-DRB*1501 (human)
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple (human)
DNA:polymorphism: :HLA-DRB1*0801 (human)
DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*15 (human)
ClinVar
OMIM
CTD
RGD
PMID:25741868 PMID:25911099 PMID:21741664 PMID:20207784 PMID:20580995 More... RGD:5147555, RGD:5147580, RGD:5147573, RGD:5147564, RGD:5147559 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human)
CTD
RGD
PMID:17956852 PMID:32560041 RGD:150429806 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr13:78,935,997...78,945,905
Ensembl chr13:76,403,304...76,412,741
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 2:175,610,127...175,616,685
Ensembl chr 2:173,312,253...173,318,810
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:18991353 RGD:12801440 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
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
RGD
PMID:16597321 PMID:18973068 PMID:15584484 RGD:5684937, RGD:5684960 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO RGD PMID:26290228 RGD:597538585 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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 chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Sys1 Sys1 golgi trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:173,610,332...173,637,624
Ensembl chr 3:153,191,090...153,220,651
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 chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor disease_progression
no_association
ISO
ISS
OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:SNP:promoter:-308G>A (human)
MouseDO
RGD
PMID:8964914 PMID:9270614 PMID:8887999 RGD:7401237, RGD:12904657, RGD:12904068 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO DNA:SNP:intron: (rs1800693) (human)
ClinVar Annotator: match by term: Multiple sclerosis | ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 | ClinVar Annotator: match by term: TNFRSF1A-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:9585614 PMID:10199409 PMID:11443543 PMID:13130484 PMID:15312137 More... RGD:8661741 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfsf14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 9:2,155,270...2,160,100
Ensembl chr 9:2,069,104...2,073,216
JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chr 9:2,031,011...2,033,345
Ensembl chr 9:1,944,017...1,946,345
JBrowse link
G Traf1 TNF receptor-associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:38,607,707...38,639,641
Ensembl chr 3:18,222,054...18,241,807
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:19,641,884...19,667,044
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
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
RGD
PMID:25853421 PMID:15118671 PMID:27049563 PMID:25685788 PMID:26540116 More... RGD:1331525, RGD:11530654, RGD:13210790, RGD:11353119, RGD:5147559 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr14:84,604,623...84,609,707
Ensembl chr14:80,390,643...80,395,693
JBrowse link
G Zfp267 zinc finger protein 267 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:120,945,434...120,964,039
Ensembl chr 2:119,017,285...119,031,900
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 chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:6605118 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:214,996,180...215,012,136
Ensembl chr 1:205,567,220...205,582,356
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 RGD:1598501 NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 RGD:1598501 NCBI chr  X:70,884,293...70,886,944
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 ISO ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15661863 RGD:5509039 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:peripheral blood, T lymphocyte (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15169653 PMID:23043710 RGD:8662430 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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 7:111,913,828...111,928,537
Ensembl chr 7:110,033,341...110,048,054
JBrowse link
G Musk muscle associated receptor tyrosine kinase treatment
severity
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)
CTD
RGD
PMID:22981737 PMID:27119269 PMID:22218276 PMID:26025053 RGD:38599166, RGD:38599165 NCBI chr 5:77,853,560...77,967,653
Ensembl chr 5:73,058,121...73,171,932
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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 chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618
JBrowse link
G Zscan25 zinc finger and SCAN domain containing 25 ISO ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chr12:14,441,458...14,451,919
Ensembl chr12:9,326,404...9,338,221
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
RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:26287559 PMID:22271321 More... RGD:5148024, RGD:597830176, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask severity IMP RGD PMID:28212662 RGD:13792592
G Cd59b CD59b molecule severity IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Il21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743
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 chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
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 chr20:29,685,876...29,762,685
Ensembl chr20:29,144,354...29,219,866
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:20122907 RGD:5687690 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Cd274 CD274 molecule severity ISO RGD PMID:21494618 RGD:6893669 NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567
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 chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 disease_progression ISO RGD PMID:15732261 RGD:1626118 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il4r interleukin 4 receptor ISO DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:14504963 RGD:13204808 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Primary progressive multiple sclerosis ClinVar PMID:2504279 PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism: :HLA-DQB1*0602 (human) RGD PMID:19616314 RGD:5147610 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:12926841 RGD:12801414 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
relapsing-remitting multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34624384 NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:90,799,686...90,811,237
JBrowse link
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:SNP:intron: C>T (human) RGD PMID:15913795 RGD:6771190 NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,144,354...29,219,866
JBrowse link
G Apoa4 apolipoprotein A4 onset ISO protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15096402 PMID:34624384 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:20855355 RGD:6893496 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd80 Cd80 molecule ISO protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:10976643 RGD:5686865 NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:57,264,962...57,300,010
JBrowse link
G Ctss cathepsin S ISO mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Grn granulin precursor disease_progression ISO protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:15153541 RGD:5128853 NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis ClinVar NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259
JBrowse link
G Klc1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chr 6:136,644,592...136,690,399
Ensembl chr 6:130,823,419...130,867,031
JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chr 7:1,805,732...1,814,054
Ensembl chr 7:1,221,343...1,229,555
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nefh neurofilament heavy chain treatment ISO RGD PMID:15222692 RGD:27226879 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain ISO associated with relapse;protein:increased expression:serum (human)
protein:increased expression:CSF (human)
RGD PMID:30761586 PMID:33658322 RGD:127285025, RGD:127285027 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 disease_progression ISO DNA:SNPs: :rs3135499,rs2066842(human) RGD PMID:20595247 RGD:13204725 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nog noggin ISO mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:brain, cerebrospinal fluid RGD PMID:12076997 RGD:5508822 NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743
JBrowse link
G Serpine1 serpin family E member 1 disease_progression ISO protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
secondary progressive multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609
JBrowse link
Stiff-Person syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atox1 antioxidant 1 copper chaperone ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:40,065,525...40,080,627
Ensembl chr10:39,564,857...39,579,950
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Stiff-man syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,364,073...39,456,216
JBrowse link
G G3bp1 G3BP stress granule assembly factor 1 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:40,087,533...40,120,931
Ensembl chr10:39,586,864...39,620,268
JBrowse link
G Glra1 glycine receptor, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hyperekplexia | ClinVar Annotator: match by term: Stiff-person syndrome, congenital
CTD
ClinVar
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chr10:40,128,284...40,228,612
Ensembl chr10:39,629,459...39,727,162
JBrowse link
G Glrb glycine receptor, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:166,134,626...166,207,489
JBrowse link
G Gm2a ganglioside GM2 activator ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,719,919...39,732,452
Ensembl chr10:39,219,243...39,231,757
JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stiff-person syndrome, congenital
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chr18:45,515,427...45,604,467
Ensembl chr18:43,328,824...43,417,952
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:24225367 PMID:25741868 PMID:28492532 NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530
JBrowse link
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,819,753...39,858,068
Ensembl chr10:39,324,337...39,354,217
JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,778,667...39,806,781
Ensembl chr10:39,278,046...39,306,082
JBrowse link
G Slc36a3 solute carrier family 36, member 3 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:39,744,226...39,774,120
Ensembl chr10:39,243,595...39,270,567
JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:99,645,389...99,697,010
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396
JBrowse link
G Trak1 trafficking kinesin protein 1 ISS OMIM:184850 MouseDO NCBI chr 8:129,861,967...130,016,870
Ensembl chr 8:120,984,431...121,139,367
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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 chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf2 colony stimulating factor 2 ISO RGD PMID:9844760 RGD:11059502 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr 1:64,985,161...64,993,274
Ensembl chr 1:56,312,066...56,320,179
JBrowse link
G Eln elastin ISO RGD PMID:9101501 RGD:9585754 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:polymorphism: :p.H131R (human) RGD PMID:16846526 RGD:5147974 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO DNA:polymorphism (human) RGD PMID:16846526 RGD:5147974 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Ifng interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
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 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Il4 interleukin 4 ISO DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
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 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chr 1:142,474,027...142,489,431
Ensembl chr 1:133,064,665...133,080,073
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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 chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:25741868 PMID:28492532 PMID:29473047 NCBI chr16:58,434,802...58,478,777
Ensembl chr16:51,737,481...51,775,390
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 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Itgb2 integrin subunit beta 2 ISO protein:decreased expression:T cell RGD PMID:21297967 RGD:6482200 NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : HLA-DQA1*0301 RGD PMID:11835809 RGD:8547565 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:20438790 RGD:8661713 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tnf tumor necrosis factor ISO associated with uveitis;protein:increased expression:aqueous humor: RGD PMID:21334264 RGD:8142356 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        autoimmune disease of the nervous system 713
          Aicardi-Goutieres syndrome + 233
          Anti-N-Methyl-D-Aspartate Receptor Encephalitis 2
          Experimental Nervous System Autoimmune Disease + 277
          Stiff-Person syndrome 16
          Vogt-Koyanagi-Harada disease 7
          autoimmune disease of central nervous system + 393
          autoimmune disease of eyes, ear, nose and throat + 24
          autoimmune disease of peripheral nervous system + 66
          central nervous system vasculitis + 26
          polyradiculoneuropathy + 19
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Immune & Inflammatory Diseases 5751
        immune system disease 5071
          primary immunodeficiency disease 4479
            autoimmune disease 2377
              autoimmune disease of the nervous system 713
                Aicardi-Goutieres syndrome + 233
                Anti-N-Methyl-D-Aspartate Receptor Encephalitis 2
                Experimental Nervous System Autoimmune Disease + 277
                Stiff-Person syndrome 16
                Vogt-Koyanagi-Harada disease 7
                autoimmune disease of central nervous system + 393
                autoimmune disease of eyes, ear, nose and throat + 24
                autoimmune disease of peripheral nervous system + 66
                central nervous system vasculitis + 26
                polyradiculoneuropathy + 19
paths to the root