autoimmune disease of the nervous system - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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

show annotations for term's descendants Sort by:
Rat (705) Mouse (609) Human (7533) Chinchilla (554) Bonobo (591) Dog (592) Squirrel (562) Pig (587) Green Monkey (587) Naked Mole-rat (552) All
Genes (606) QTL (56) Strains (43)

autoimmune disease of the nervous system

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldolase, fructose-bisphosphate C

associated with Streptococcal Infections

RGD

NCBI chr10:63,217,477...63,221,066
Ensembl chr10:63,217,451...63,221,066

G

annexin A5

RGD

NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369

G

eomesodermin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:118,181,340...118,189,186
Ensembl chr 8:118,181,777...118,188,316

G

melanoma cell adhesion molecule

CTD Direct Evidence: therapeutic

NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571

acute disseminated encephalomyelitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

disease_progression

protein:increased expression:T cell:

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

neurofilament light chain

disease_progression

protein:increased expresssion:serum (human)

RGD

NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphism (human)
DNA:polymorphism, haplotype: :

RGD

PMID:19722042 PMID:22786832

RGD:5147662, RGD:36049763

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphisms (human)
DNA:polymorphism, haplotype: :

RGD

PMID:19722042 PMID:22786832

RGD:5147662, RGD:36049763

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

Acute Experimental Autoimmune Encephalomyelitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myelin-associated glycoprotein

protein:decreased expression:optic nerve

RGD

NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656

G

zinc finger CCCH type containing 12A

disease_progression

RGD

NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351

Aicardi-Goutieres syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase, RNA-specific

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...

NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282

G

ATR interacting protein

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

PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More...

NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477

G

interferon induced with helicase C domain 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:24686847 PMID:25741868

NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456

G

lysine acetyltransferase 5

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458

G

ribonuclease H2, subunit A

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More...

NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041

G

ribonuclease H2, subunit B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More...

NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118

G

ribonuclease H2, subunit C

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More...

NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More...

NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386

G

TBC/LysM-associated domain containing 2

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741

G

three prime repair exonuclease 1

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:17660818 PMID:17660820 PMID:17846997 More...

NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144

Aicardi-Goutieres Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion molecule with Ig like domain 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555

G

aminomethyltransferase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126

G

acylaminoacyl-peptide hydrolase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933

G

ariadne RBR E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852

G

ATR interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant

PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More...

NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477

G

bassoon (presynaptic cytomatrix protein)

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819

G

similar to human chromosome 3 open reading frame 62

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,080,032...109,084,588
Ensembl chr 8:109,036,030...109,097,895

G

CaM kinase-like vesicle-associated

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169

G

coiled-coil domain containing 71

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216

G

cadherin-related family member 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367

G

cadherin, EGF LAG seven-pass G-type receptor 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354

G

ciliary microtubule inner protein 7

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252

G

dystroglycan 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325

G

DALR anticodon binding domain containing 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568

G

DNA cross-link repair 1C

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532

NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186

G

GDP-mannose pyrophosphorylase B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286

G

G protein subunit alpha i2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979

G

G protein subunit alpha transducin 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671

G

glutathione peroxidase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

hyaluronidase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210

G

hyaluronidase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647

G

interferon-related developmental regulator 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194

G

interactor of HORMAD1 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434

G

inosine monophosphate dehydrogenase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359

G

inka box actin regulator 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953

G

inositol hexakisphosphate kinase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,693,068...108,737,278

G

inositol hexakisphosphate kinase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166

G

kelch domain containing 8B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918

G

laminin subunit beta 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

leucine-rich single-pass membrane protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115

G

microRNA 191

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,264,098...109,264,188

G

MON1 homolog A, secretory trafficking associated

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156

G

macrophage stimulating 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455

G

N(alpha)-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563

G

NCK interacting protein with SH3 domain

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246

G

NADH:ubiquinone oxidoreductase complex assembly factor 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194

G

nicolin 1, tubulin polyglutamylase complex subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067

G

prolyl 4-hydroxylase, transmembrane

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634

G

protein kinase cAMP-dependent type II regulatory subunit alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628

G

glutaminyl-tRNA synthetase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739

G

glutamine-rich 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359

G

RNA binding motif protein 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430

G

RNA binding motif protein 6

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771

G

ras homolog family member A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

ribonuclease H2, subunit B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118

G

ring finger protein 123

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675

G

semaphorin 3B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919

G

semaphorin 3F

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083

G

shisa family member 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408

G

solute carrier family 25 member 20

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512

G

solute carrier family 26 member 6

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778

G

solute carrier family 38, member 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988

G

T-cell leukemia translocation altered

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564

G

transmembrane protein 89

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271

G

TRAF-interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638

G

three prime repair exonuclease 1

susceptibility

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant

PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More...

NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796

G

ubiquitin-like modifier activating enzyme 7

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099

G

urocortin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172

G

ubiquinol-cytochrome c reductase core protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480

G

ubiquitin specific peptidase 19

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741

G

ubiquitin specific peptidase 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,035,402...109,079,382
Ensembl chr 8:109,036,099...109,080,427

G

WD repeat domain 6

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499

Aicardi-Goutieres Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribonuclease H2, subunit B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition

PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More...

NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118

Aicardi-Goutieres Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,159,081...202,175,012
Ensembl chr 1:202,159,082...202,175,012

G

aminoacylase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,279,751...201,285,803
Ensembl chr 1:201,279,851...201,283,175

G

aryl-hydrocarbon receptor-interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122

G

aldehyde dehydrogenase 3 family, member B1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,145,309...201,162,675
Ensembl chr 1:201,145,309...201,163,921

G

aldehyde dehydrogenase 3 family, member B2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,250,260...201,264,699
Ensembl chr 1:201,253,157...201,264,705
Ensembl chr 1:201,253,157...201,264,705

G

aldehyde dehydrogenase 3 family, member B3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,193,832...201,201,666
Ensembl chr 1:201,187,962...201,250,204

G

ankyrin repeat domain 13D

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,565,712...201,577,987
Ensembl chr 1:201,565,712...201,577,933

G

anoctamin 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:199,751,439...199,900,099
Ensembl chr 1:199,751,439...199,900,069

G

adaptor related protein complex 5 subunit beta 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289

G

beta-1,4-glucuronyltransferase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065

G

barrier to autointegration nuclear assembly factor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188

G

Bardet-Biedl syndrome 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086

G

basophilic leukemia expressed protein BLES03

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804

G

BRMS1, transcriptional repressor and anoikis regulator

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028

G

similar to human chromosome 11 open reading frame 24

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,945,188...200,953,953
Ensembl chr 1:200,945,180...200,962,585

G

similar to human chromosome 11 open reading frame 86

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,784,009...201,785,916
Ensembl chr 1:201,784,009...201,785,916

G

calcium binding protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469

G

calcium binding protein 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172

G

calpain 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177

G

carnosine synthase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,459,061...201,470,019
Ensembl chr 1:201,459,076...201,469,845

G

cation channel, sperm associated 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824

G

coiled-coil domain containing 85B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703

G

coiled-coil domain containing 87

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,135,021...202,137,717
Ensembl chr 1:202,134,963...202,138,337

G

cyclin D1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

copper chaperone for superoxide dismutase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915

G

CD248 molecule

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240

G

CDC42 effector protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897

G

cyclin-dependent kinase 2 associated protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,391,056...201,393,137
Ensembl chr 1:201,391,466...201,393,137

G

cofilin 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587

G

choline kinase alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516

G

cardiotrophin-like cytokine factor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605

G

cornichon family AMPA receptor auxiliary protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089

G

coronin 1B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,442,977...201,448,416
Ensembl chr 1:201,443,014...201,448,416

G

carnitine palmitoyltransferase 1A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055

G

cystatin E/M

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030

G

cathepsin F

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525

G

cathepsin W

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964

G

double PHD fingers 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983

G

dipeptidylpeptidase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541

G

Dr1 associated protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425

G

EGF containing fibulin extracellular matrix protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

EH domain binding protein 1-like 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270

G

eukaryotic translation initiation factor 1A domain containing

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658

G

Fas associated via death domain

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653

G

family with sequence similarity 89, member B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367

G

fibroblast growth factor 19

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287

G

fibroblast growth factor 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187

G

fibroblast growth factor 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,023,937...200,027,793
Ensembl chr 1:200,024,056...200,025,466

G

FGF1 intracellular binding protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399

G

FOS like 1, AP-1 transcription factor subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930

G

FERM domain containing 8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870

G

galanin and GMAP prepropeptide

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959

G

galactose-3-O-sulfotransferase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445

G

G protein-coupled receptor 152

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,435,878...201,438,373
Ensembl chr 1:201,435,884...201,437,443

G

G protein-coupled receptor kinase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582

G

glutathione S-transferase pi 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

immunoglobulin mu DNA binding protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514

G

lysine acetyltransferase 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:25741868 PMID:28492532 PMID:28600438

NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458

G

potassium two pore domain channel subfamily K member 7

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872

G

lysine demethylase 2A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,612,427...201,682,359
Ensembl chr 1:201,612,453...201,680,787

G

kinesin light chain 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672

G

lysine methyltransferase 5B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819

G

leucine rich repeat and fibronectin type III domain containing 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,888,569...201,891,861
Ensembl chr 1:201,888,569...201,891,861

G

LDL receptor related protein 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975

G

LTO1 maturation factor of ABCE1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,074,247...200,080,951
Ensembl chr 1:200,074,253...200,088,061

G

mitogen-activated protein kinase kinase kinase 11

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652

G

MAS related GPR family member D

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,479,204...200,487,902
Ensembl chr 1:200,485,189...200,486,148

G

MAS related GPR family member F

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,464,100...200,473,588
Ensembl chr 1:200,463,973...200,473,660

G

mitochondrial ribosomal protein L11

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756

G

mitochondrial ribosomal protein L21

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,529,416...200,542,568
Ensembl chr 1:200,529,416...200,537,896

G

MUS81 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843

G

NADH:ubiquinone oxidoreductase core subunit S8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511

G

NADH:ubiquinone oxidoreductase core subunit V1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466

G

neuronal PAS domain protein 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724

G

nudix hydrolase 8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,293,660...201,295,233
Ensembl chr 1:201,292,619...201,295,224

G

ovo like transcriptional repressor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831

G

phosphofurin acidic cluster sorting protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473

G

pyruvate carboxylase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380

G

pecanex 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561

G

pellino E3 ubiquitin protein ligase family member 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857

G

phosphatidylinositol transfer protein, membrane-associated 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,394,099...201,407,523
Ensembl chr 1:201,394,149...201,407,522

G

DNA polymerase alpha 2, accessory subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348

G

DNA polymerase delta 4, accessory subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,526,591...201,528,406
Ensembl chr 1:201,526,665...201,528,401

G

protein phosphatase 1 catalytic subunit alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327

G

protein phosphatase 6, regulatory subunit 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,693,128...200,807,578
Ensembl chr 1:200,693,440...200,807,548

G

protein tyrosine phosphatase, receptor type, C-associated protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,449,133...201,451,293
Ensembl chr 1:201,449,113...201,451,288

G

RAB1B, member RAS oncogene family

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868
Ensembl chr X:202,405,759...202,413,868

G

RAD9 checkpoint clamp component A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,488,511...201,553,582
Ensembl chr 1:201,487,136...201,553,608

G

RNA binding motif protein 14

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,076,940...202,105,688
Ensembl chr 1:202,078,287...202,105,665
Ensembl chr 1:202,078,287...202,105,665

G

RNA binding motif protein 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,078,442...202,087,506
Ensembl chr 1:202,085,279...202,105,380

G

RNA binding motif protein 4B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,047,934...202,058,025
Ensembl chr 1:202,047,927...202,058,020

G

Ras converting CAAX endopeptidase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,899,358...201,902,593
Ensembl chr 1:201,899,358...201,902,484

G

RELA proto-oncogene, NF-kB subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

ras homolog family member D

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,708,699...201,724,405
Ensembl chr 1:201,708,699...201,722,632

G

Ras and Rab interactor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729

G

ribonuclease H2, subunit C

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 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516

G

ribosomal protein S6 kinase B2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,451,265...201,458,096
Ensembl chr 1:201,451,265...201,458,078

G

spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136

G

SCY1 like pseudokinase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533

G

splicing factor 3b, subunit 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759

G

signal-induced proliferation-associated 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591

G

solute carrier family 25, member 45

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473

G

solute carrier family 29 member 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171

G

sorting nexin 32

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743

G

spectrin, beta, non-erythrocytic 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283

G

slingshot protein phosphatase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,557,167...201,565,577
Ensembl chr 1:201,557,169...201,564,753

G

synaptotagmin 12

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,729,307...201,760,192
Ensembl chr 1:201,730,371...201,759,609

G

TBC1 domain family, member 10C

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,476,258...201,484,876
Ensembl chr 1:201,477,157...201,564,920

G

T-box transcription factor 10

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,285,729...201,292,676
Ensembl chr 1:201,279,829...201,292,601

G

T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742

G

testis expressed metallothionein like protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,629,688...200,648,434
Ensembl chr 1:200,630,144...200,648,433

G

tigger transposable element derived 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272

G

transmembrane protein 134

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,419,225...201,424,778
Ensembl chr 1:201,419,264...201,431,411

G

transmembrane protein 151A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182

G

TOP6B like initiator of meiotic double strand breaks

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,902,564...201,989,945

G

two pore segment channel 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236

G

testis specific 10 interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798

G

unc-93 homolog B1, TLR signaling regulator

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338

G

Yip1 interacting factor homolog A, membrane trafficking protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427

G

zinc finger, DHHC-type containing 24

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880

G

zinc ribbon domain containing 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465

Aicardi-Goutieres Syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bestrophin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225

G

calreticulin

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

DAN domain BMP antagonist family member 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589

G

deoxyhypusine synthase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881

G

deoxyribonuclease 2, lysosomal

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376

G

phenylalanyl-tRNA synthetase subunit alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980

G

F-box and WD repeat domain containing 9

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439

G

GADD45G interacting protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236

G

glutaryl-CoA dehydrogenase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681

G

guided entry of tail-anchored proteins factor 3, ATPase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193

G

hook microtubule-tethering protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181

G

immediate early response 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211

G

JunB proto-oncogene, AP-1 transcription factor subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035

G

KLF transcription factor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758

G

LYL1, basic helix-loop-helix family member

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007

G

mannosidase, alpha, class 2B, member 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389

G

microtubule associated serine/threonine kinase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235

G

nucleus accumbens associated 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528

G

nuclear factor I X

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265

G

peroxiredoxin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194

G

RAD23 homolog A, nucleotide excision repair protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695

G

ribonuclease H2, subunit A

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 chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041

G

retbindin

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438

G

synaptonemal complex central element protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980

G

transportin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596

G

telomerase RNA component interacting RNase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510

G

tRNA methyltransferase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956

G

WD repeat domain 83

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563

G

WD repeat domain 83 opposite strand

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894

Aicardi-Goutieres Syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BLCAP, apoptosis inducing factor

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 3:146,222,699...146,232,859
Ensembl chr 3:146,222,240...146,232,909

G

catenin, beta like 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987

G

growth hormone releasing hormone

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889

G

mannosidase beta like

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 3:146,035,082...146,064,676
Ensembl chr 3:146,035,066...146,064,676

G

maestro heat-like repeat family member 8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 3:145,873,995...145,942,439
Ensembl chr 3:145,873,996...145,942,319

G

neuronatin

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834

G

RB transcriptional corepressor like 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 3:145,806,160...145,869,434
Ensembl chr 3:145,807,095...145,869,330

G

ribophorin II

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 3:145,941,787...145,989,271
Ensembl chr 3:145,941,839...145,989,543

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

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 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476

G

TBC/LysM-associated domain containing 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

PMID:25741868 PMID:28492532

NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741

Aicardi-Goutieres Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase, RNA-specific

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6

PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More...

NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282

Aicardi-Goutieres Syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon induced with helicase C domain 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More...

NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456

Aicardi-Goutieres Syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LSM11, U7 small nuclear RNA associated

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8

NCBI chr10:30,367,841...30,385,956
Ensembl chr10:30,370,727...30,385,944

Aicardi-Goutieres Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gene rich cluster, C10 gene

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9

PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297

NCBI chr 4:157,551,276...157,552,924

Alpers-Huttenlocher syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 4

RGD

NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856

G

ectodysplasin-A receptor

ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy

PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More...

NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494

G

FA complementation group I

ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy

PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More...

NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640

G

DNA polymerase gamma, catalytic subunit

susceptibility

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 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 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 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 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

G

RNA polymerase mitochondrial

ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy

NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791

G

RAN binding protein 2

ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy

PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More...

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

G

retinaldehyde binding protein 1

ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy

PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532

NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296

Anti-N-Methyl-D-Aspartate Receptor Encephalitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurofilament heavy chain

treatment

RGD

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

G

neurofilament light chain

treatment

RGD

NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793

autoimmune optic neuritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurofilament heavy chain

severity

RGD

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

autoimmune uveitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microRNA 21

ameliorates

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

central nervous system vasculitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class I, locus CE16

susceptibility

DNA:polymorphism:HLA-A69

NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563

chronic inflammatory demyelinating polyradiculoneuropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 28

RGD

NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997

G

C-C motif chemokine ligand 5

mRNA:increased expression:sciatic nerve (mouse)

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

matrix metallopeptidase 9

protein:increased expression:sural nerve

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

Chronic Relapsing Experimental Autoimmune Encephalomyelitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

mRNA:increased expression:spinal cord (rat)

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

neurofilament heavy chain

protein:decreased expression:spinal cord:

RGD

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

G

proteolipid protein 1

human sequence peptide in a mouse model; associated with Herpesviridae infections

RGD

NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032

G

serpin family E member 1

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

congenital myasthenic syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

choline O-acetyltransferase

susceptibility

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...

NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093

G

solute carrier family 18 member A3

ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myasthenia

PMID:21948486 PMID:25741868 PMID:28492532

NCBI chr16:7,713,630...7,716,491

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Familial infantile myasthenia

PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More...

NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

Experimental Autoimmune Encephalomyelitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

treatment

RGD

NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786

G

ADAM metallopeptidase domain 17

RGD

NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639

G

ADAM metallopeptidase domain 8

RGD

NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801

G

allograft inflammatory factor 1

protein:altered expression:spinal cord (rat)

RGD

NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668

G

A-kinase anchoring protein 12

mRNA,protein:increased expression:spinal cord

RGD

NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886

G

arachidonate 15-lipoxygenase

RGD

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

G

adhesion molecule with Ig like domain 2

severity

RGD

NCBI chr 7:128,391,493...128,394,589
Ensembl chr 7:128,390,412...128,394,695

G

annexin A1

protein:increased expression:brain, astrocyte, macrophage

RGD

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

apolipoprotein E

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

aquaporin 4

disease_progression
severity

RGD

PMID:21056916 PMID:23707078 PMID:21157915 PMID:19660138

RGD:5148015, RGD:8696030, RGD:5490117, RGD:5490116

NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856

G

beta-2 microglobulin

RGD

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

beta-1,4-galactosyltransferase 6

mRNA:increased expression:astrocyte

RGD

NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247

G

brain-derived neurotrophic factor

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

complement C3

protein:increased expression:cerebrospinal fluid

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C6

severity

RGD

NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275

G

calcium voltage-gated channel subunit alpha1 B

RGD

NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091

G

calcitonin-related polypeptide alpha

no_association

RGD

NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105

G

caspase 3

protein:increased activity, increased expression:spinal cord

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

caspase 8

protein:increased activity, increased expression:spinal cord

RGD

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

caspase 9

protein:increased expression:spinal cord

RGD

NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626

G

caveolin 3

onset

Protein:increased expression:spinal cord, astrocyte

RGD

NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137

G

Cbl proto-oncogene B

CTD Direct Evidence: marker/mechanism

NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839

G

C-C motif chemokine ligand 1

mRNA:decreased expression:lymph node

RGD

NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159

G

C-C motif chemokine ligand 11

mRNA:increased expression:lymph node

RGD

NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926

G

C-C motif chemokine ligand 2

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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 3

mRNA:increased expression:spinal cord

RGD

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

C-C motif chemokine ligand 5

protein:increased expression:brain (mouse)
mRNA:increased expression:spinal cord

RGD

PMID:15833367 PMID:17666800

RGD:4890027, RGD:2307114

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

C-C motif chemokine receptor 1

RGD

PMID:14655765 PMID:14512166

RGD:5688165, RGD:5688167

NCBI chr 8:123,556,286...123,561,841

G

C-C motif chemokine receptor 2

mRNA:increased expression:spinal cord

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 3

RGD

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

C-C motif chemokine receptor 5

mRNA:increased expression:spinal cord, macrophage, microglia (rat)

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

Cd28 molecule

RGD

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

Cd4 molecule

treatment

protein:decreased expression:T lymphocyte:

RGD

PMID:9138014 PMID:3097071

RGD:10058963, RGD:10058968

NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191

G

Cd80 molecule

RGD

NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030

G

CD86 molecule

resistance
disease_progression

protein:increased expression:spinal cord, blood vessel (rat)

RGD

PMID:10477557 PMID:20451260

RGD:4892227, RGD:4892207

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

class II, major histocompatibility complex, transactivator

RGD

NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440

G

2',3'-cyclic nucleotide 3' phosphodiesterase

RGD

PMID:21107918 PMID:7541143 PMID:10650887

RGD:6483335, RGD:6483353, RGD:6483351

NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720

G

catechol-O-methyltransferase

treatment

RGD

NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642

G

carboxypeptidase B2

RGD

NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556

G

chondroitin sulfate proteoglycan 4

protein:increased expression:spinal cord

RGD

PMID:21679768 PMID:20162860

RGD:5686852, RGD:5686863

NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010

G

cytotoxic T-lymphocyte-associated protein 4

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

cathepsin C

RGD

NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387

G

cathepsin S

RGD

NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

RGD

PMID:16053521 PMID:24706865

RGD:4891973, RGD:9491767

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

C-X-C motif chemokine receptor 2

RGD

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

C-X-C motif chemokine receptor 3

RGD

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

DAB adaptor protein 2

disease_progression

RGD

NCBI chr 2:55,514,692...55,567,476
Ensembl chr 2:55,514,700...55,567,476

G

delta like non-canonical Notch ligand 1

RGD

NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522

G

delta like canonical Notch ligand 1

RGD

NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179

G

delta like canonical Notch ligand 4

ameliorates

RGD

NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931

G

dual specificity phosphatase 10

RGD

NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716

G

ectonucleoside triphosphate diphosphohydrolase 1

disease_progression

RGD

NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

endoplasmic reticulum to nucleus signaling 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029

G

estrogen receptor 2

RGD

PMID:21565615 PMID:21182085

RGD:5508732, RGD:5508735

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

Fas ligand

treatment

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

Fc gamma receptor 2A

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

fibroblast growth factor 2

mRNA:increased expression:spinal cord

RGD

PMID:8929896 PMID:9814819

RGD:8655647, RGD:9831448

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

Fms related receptor tyrosine kinase 1

treatment

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561

G

growth hormone releasing hormone

resistance

RGD

NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889

G

ghrelin and obestatin prepropeptide

treatment

RGD

NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621

G

gap junction protein, gamma 2

protein:decreased expression:white matter of spinal cord, gap junction (mouse)

RGD

NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467

G

GLI family zinc finger 1

RGD

NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251

G

glutamate dehydrogenase 1

mRNA, protein:decreased expression:spinal cord

RGD

NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957

G

glutathione peroxidase 3

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

hepatitis A virus cellular receptor 2

mRNA:increased expression:spinal cord:

RGD

PMID:11823861 PMID:15913792

RGD:9686086, RGD:9686113

NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137

G

3-hydroxy-3-methylglutaryl-CoA reductase

RGD

PMID:17085013 PMID:14691063

RGD:5508469, RGD:5508476

NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703

G

interferon beta 1

ameliorates
treatment
exacerbates

RGD

PMID:9578846 PMID:8955226 PMID:19380780 PMID:18997868

RGD:401854237, RGD:401854247, RGD:401854246, RGD:5147399

NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523

G

interferon gamma

disease_progression
treatment

RGD

PMID:15661899 PMID:22896638

RGD:7987912, RGD:10755692

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

insulin-like growth factor 1

treatment

human protein in a rat model

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 10

treatment

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 10 receptor subunit alpha

RGD

NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061

G

interleukin 12A

RGD

NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734

G

interleukin 12B

mRNA, protein:increased expression:lymph node

RGD

NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903

G

interleukin 13

severity

RGD

PMID:18250480 PMID:7523520

RGD:5684366, RGD:5684367

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 16

RGD

NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130

G

interleukin 17A

treatment

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 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

mRNA:increased expression:spinal cord

RGD

PMID:9834127 PMID:9846824

RGD:4889543, RGD:4889542

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 18 receptor 1

mRNA:increased expression:lymph node

RGD

NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715

G

interleukin 1 receptor antagonist

treatment

human protein in a rat model

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 21

RGD

NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 21 receptor

no_association
disease_progression

RGD

PMID:18546146 PMID:18353312

RGD:6892939, RGD:6892940

NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522

G

interleukin 22

RGD

NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186

G

interleukin 27

protein:decreased expression:blood serum (mouse)

RGD

NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582

G

interleukin 2 receptor subunit alpha

RGD

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

interleukin 4

treatment

RGD

PMID:18239607 PMID:1383385

RGD:7829778, RGD:8142395

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

protein:increased expression:oligodendrocytes (rat)

RGD

PMID:9358769 PMID:23322593

RGD:2307412, RGD:12791289

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

integrin subunit alpha 4

treatment
susceptibility

rat bone marrow cells in a mouse model

RGD

PMID:12626659 PMID:18722022

RGD:9698418, RGD:9698436

NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715

G

jagged canonical Notch ligand 1

RGD

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

Janus kinase 2

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

Janus kinase 3

treatment

RGD

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

kinase insert domain receptor

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

KIT proto-oncogene receptor tyrosine kinase

RGD

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

LDL receptor related protein 1

protein:increased expression:cerebellum, spinal cord

RGD

NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910

G

lymphotoxin alpha

mRNA:increased expression:spinal cord
mRNA:increased expression:brain

RGD

PMID:7593556 PMID:9184655

RGD:1625038, RGD:4143220

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

microtubule-associated protein tau

treatment

RGD

NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129

G

myelin basic protein

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 chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404

G

midkine

RGD

NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130

G

microRNA 146a

mRNA:increased expression:spinal cord (mouse)

RGD

NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610

G

microRNA 23b

treatment

mRNA:decreased expression:spinal cord (mouse)

PMID:22660635 PMID:22660635

RGD:155663483, RGD:155663483

NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763

G

matrix metallopeptidase 2

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 7

RGD

NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902

G

matrix metallopeptidase 9

treatment

protein:increased expression:multiple tissues

RGD

PMID:9549496 PMID:24797785 PMID:20810258 PMID:22800566

RGD:8547909, RGD:13204801, RGD:13204762, RGD:8547936

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

myelin-associated oligodendrocyte basic protein

RGD

NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563

G

myelin oligodendrocyte glycoprotein

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 chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474

G

metallothionein 1

mRNA:increased expression:brain (mouse)

RGD

NCBI chr19:10,826,032...10,827,048
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

G

metallothionein 2A

mRNA:increased expression:brain (mouse)

RGD

NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784

G

metallothionein 3

mRNA:increased expression:brain (mouse)

RGD

NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158

G

neural cell adhesion molecule 1

protein:decreased expression:hippocampus

RGD

NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014

G

neurofilament light chain

protein:increased expression:cerebrospinal fluid, spinal cord

RGD

NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nerve growth factor

protein, mRNA:increased expression:thalamus and cortex, CNS

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nerve growth factor receptor

severity

mRNA:increased expression:central nervous system

RGD

PMID:16519950 PMID:8866783

RGD:5508312, RGD:5508386

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

G

nitric oxide synthase 2

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nuclear receptor subfamily 1, group H, member 2

RGD

NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377

G

nuclear receptor subfamily 3, group C, member 1

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

neurotrophic receptor tyrosine kinase 1

mRNA:increased expression:brain subventricular zone:

RGD

NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770

G

oligodendrocyte transcription factor 1

treatment

RGD

NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521

G

oligodendrocyte transcription factor 2

treatment

RGD

PMID:24941845 PMID:29682587

RGD:40902822, RGD:40902863

NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152

G

programmed cell death 1

susceptibility

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

platelet derived growth factor subunit B

treatment

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

platelet derived growth factor receptor alpha

treatment

RGD

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

platelet derived growth factor receptor beta

treatment

RGD

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

RGD

NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043

G

proteolipid protein 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21068375 PMID:24941845

NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

perforin 1

RGD

NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701

G

protein kinase AMP-activated catalytic subunit alpha 1

severity

RGD

NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978

G

prostaglandin-endoperoxide synthase 1

protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:microglia, macrophage,

RGD

PMID:21667309 PMID:10229132

RGD:5688149, RGD:5688250

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:endothelial cell

RGD

PMID:21667309 PMID:10229132

RGD:5688149, RGD:5688250

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

pleiotrophin

mRNA:increased expression:spinal cord (rat)

RGD

NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456

G

QKI, KH domain containing RNA binding

RGD

NCBI chr 1:50,387,716...50,501,568
Ensembl chr 1:50,387,698...50,498,831

G

RAN guanine nucleotide release factor

RGD

NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840

G

ras homolog family member A

severity

protein:increased expression:microglial cell, brain

RGD

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

RT1 class II, locus Ba

RGD

PMID:18050272 PMID:9834080 PMID:16723470

RGD:5147622, RGD:5147666, RGD:5147639

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

RGD

PMID:16723470 PMID:9834080 PMID:16194572

RGD:5147639, RGD:5147666, RGD:5147647

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Da

RGD

NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455

G

RT1 class II, locus Db1

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

serpin family E member 1

mRNA,protein:increased expression,increased activity:spinal cord, astrocyte:

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

sonic hedgehog signaling molecule

RGD

PMID:15892298 PMID:18991353

RGD:12801423, RGD:12801440

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

G

sigma non-opioid intracellular receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017

G

sirtuin 1

CTD Direct Evidence: therapeutic

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

secretory leukocyte peptidase inhibitor

treatment

RGD

NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453

G

synuclein, beta

RGD

NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012

G

serine and arginine rich splicing factor 9

treatment

RGD

NCBI chr12:41,278,225...41,284,502
Ensembl chr12:41,275,687...41,284,499

G

signal transducer and activator of transcription 1

RGD

NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 3

RGD

PMID:22066025 PMID:17878325

RGD:6483041, RGD:6892946

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 4

RGD

NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540

G

transforming growth factor, beta 1

mRNA, protein:increased expression:central nervous system

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

transforming growth factor, beta 2

mRNA, protein:decreased expression:central nervous system

RGD

NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405

G

TIMP metallopeptidase inhibitor 3

protein:increased expression:spinal cord

RGD

NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839

G

toll-like receptor 2

protein:increased expression:spinal cord

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

protein:increased expression:spinal cord

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

treatment

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

vascular cell adhesion molecule 1

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

vitamin D receptor

treatment

RGD

PMID:21318047 PMID:21287548

RGD:8158064, RGD:13210791

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

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 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

vasoactive intestinal peptide

RGD

NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216

G

X-box binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693

Experimental Autoimmune Myasthenia Gravis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 2/3 complex, subunit 5

treatment

RGD

NCBI chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410

G

complement C3

RGD

PMID:17962462 PMID:147324

RGD:7401263, RGD:11040804

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C6

susceptibility

RGD

NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275

G

CD40 ligand

treatment

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

complement factor B

treatment

RGD

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

cholinergic receptor nicotinic alpha 1 subunit

treatment

RGD

NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840

G

cathepsin L

mRNA:increased expression:quadriceps (rat)

RGD

NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548

G

C-X-C motif chemokine ligand 10

RGD

PMID:19232748 PMID:15843529

RGD:2311364, RGD:1598501

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 9

RGD

NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435

G

C-X-C motif chemokine receptor 3

RGD

PMID:15843529 PMID:19232748

RGD:1598501, RGD:2311364

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

interleukin 15

protein:increased expression:skeletal muscle

RGD

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

interleukin 23 receptor

mRNA:increased expression:lymph node

RGD

NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 2 receptor subunit alpha

RGD

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

interleukin 4 receptor

protein:increased expression:skeletal muscle

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

G

muscle associated receptor tyrosine kinase

RGD

NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932

G

myogenin

RGD

NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039

G

receptor-associated protein of the synapse

protein:decreased expression:neuromuscular junction

RGD

NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373

Experimental Autoimmune Neuritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 8

RGD

NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801

G

allograft inflammatory factor 1

protein:increased expression:spinal cord (rat)

RGD

NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668

G

annexin A1

protein:increased expression:sciatic nerve

RGD

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

amyloid beta precursor protein

treatment

RGD

NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561

G

caveolin 1

protein:increased phosphorylation:sciatic nerve

RGD

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine receptor 1

protein:increased expression:sciatic nerve, macrophage, T cell

RGD

NCBI chr 8:123,556,286...123,561,841

G

CD14 molecule

severity

RGD

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

Cd28 molecule

RGD

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD59b molecule

protein:increased expression:Schwann cell (rat)

RGD

NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

DCC netrin 1 receptor

RGD

NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740

G

dihydroorotate dehydrogenase

treatment

RGD

NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654

G

endothelial PAS domain protein 1

RGD

NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228

G

erythropoietin

RGD

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

forkhead box P3

protein:decreased expression:sciatic nerve

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

hepatitis A virus cellular receptor 2

disease_progression

mRNA,protein:increased expression:sciatic nerve:

RGD

NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137

G

hypoxia inducible factor 1 subunit alpha

RGD

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

3-hydroxy-3-methylglutaryl-CoA reductase

disease_progression

RGD

NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703

G

interferon beta 1

ameliorates

RGD

NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523

G

interleukin 17A

mRNA, protein:increased expression:sciatic nerve, inguinal lymph node

RGD

PMID:10785455 PMID:19207263

RGD:4888513, RGD:4831923

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 1 beta

treatment

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 5

treatment

RGD

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

G

matrix metallopeptidase 7

RGD

NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902

G

matrix metallopeptidase 9

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

nitric oxide synthase 2

protein:increased expression:nerve root, leukocyte, Schwann cell (rat)

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

prostaglandin-endoperoxide synthase 1

protein:increased expression:

RGD

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

ras homolog family member A

protein:increased expression:spinal ganglion, macrophage, T cell

RGD

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

toll-like receptor 2

severity

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

mRNA:increased expression:multiple tissues

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 9

mRNA:increased expression:multiple tissues

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

treatment

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

triggering receptor expressed on myeloid cells 1

ameliorates

mRNA:increased expression:sciatic nerve,peripheral blood mononuclar cell

RGD

PMID:28260057 PMID:28260057

RGD:127284841, RGD:127284841

NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203

Graves ophthalmopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbonic anhydrase 1

RGD

NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208

G

catalase

treatment

protein:decreased activity:blood:
protein:increased activity:plasma:

RGD

PMID:20394549 PMID:15158621

RGD:9071200, RGD:9086875

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 2

mRNA:increased expression:orbital fat (human)

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

cytotoxic T-lymphocyte-associated protein 4

severity
no_association

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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

intercellular adhesion molecule 1

DNA:polymorphism: :c.1405A>G (human)

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interferon gamma

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

insulin-like growth factor 1

mRNA,protein:increased expression,increased excretion:orbital tissue:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 10

DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum

RGD

PMID:21067483 PMID:11753760

RGD:7364859, RGD:7365083

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 18

treatment

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 alpha

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 receptor antagonist

severity
susceptibility

protein:increased expression:serum (human)
DNA:snp:exon:11100 C>T (rs315952) (human)

RGD

PMID:12186498 PMID:19702713

RGD:7387296, RGD:8549808

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 23 receptor

no_association
susceptibility

DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)

RGD

PMID:22663548 PMID:18073300

RGD:7421521, RGD:8549554

NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 3

DNA: SNP: : rs40401

RGD

NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066

G

kinesin family member 1A

RGD

NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480

G

peroxisome proliferator-activated receptor gamma

mRNA:increased expression:orbital fat (human)

RGD

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine phosphatase, non-receptor type 22

DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human)

RGD

NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779

G

stearoyl-CoA desaturase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562

G

serpin family E member 1

severity

associated with Graves Disease;protein:increased expression:tears (human)

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

tumor necrosis factor

susceptibility

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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

thyroid stimulating hormone receptor

severity

DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:31705858 PMID:22673349 PMID:20237164

RGD:8548662, RGD:8548673

NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538

Guillain-Barre syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

autoimmune regulator

OMIM:139393

NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060

G

apolipoprotein A4

protein:increased expression:cerebrospinal fluid (human)

RGD

NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469

G

C-C motif chemokine ligand 2

disease_progression

protein:increased expression:plasma (human)

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

CD86 molecule

OMIM:139393

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

cystatin C

protein:decreased expression:cerebrospinal fluid

RGD

NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822

G

cathepsin B

protein:increased expression:cerebrospinal fluid

RGD

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

glial cell derived neurotrophic factor

RGD

NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209

G

hypocretin neuropeptide precursor

RGD

NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210

G

peripheral myelin protein 22

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Guillain-Barre syndrome, familial

OMIM
CTD
ClinVar

PMID:12402337 PMID:25741868 PMID:26392352 PMID:26467025 PMID:28492532 More...

NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714

Lambert-Eaton myasthenic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 A

NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225

G

calcium voltage-gated channel subunit alpha1 B

RGD

NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091

G

cholinergic receptor, muscarinic 1

RGD

NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356

Lupus Vasculitis, Central Nervous System

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc gamma receptor 3A

CTD Direct Evidence: marker/mechanism

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

internexin neuronal intermediate filament protein, alpha

severity

RGD

NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330

G

integrin subunit alpha M

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

selectin P

RGD

NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845

multiple sclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786

G

aggrecan

protein:altered expression:central nervous system, plaque (human)

RGD

NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627

G

acetylcholinesterase

protein:decreased expression:cerebrospinal fluid

RGD

NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

advanced glycosylation end product-specific receptor

susceptibility

DNA:polymorphism:cds:p.G82S rs2070600 (human)

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

protein:decreased expression:brain,astrocyte:

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

absent in melanoma 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975

G

apolipoprotein A1

protein:increased expression: serum

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein C2

RGD

NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism

PMID:15048896 PMID:15118671

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

beta-1,4-galactosyltransferase 5

mRNA:increased expression:white matter

RGD

NCBI chr 3:156,018,056...156,033,983
Ensembl chr 3:156,018,053...156,070,074

G

beta-1,4-galactosyltransferase 6

mRNA:increased expression:white matter

RGD

NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148

G

Bcl2-like 2

mRNA:decreased expression:brain:

RGD

NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624

G

brain-derived neurotrophic factor

onset

protein:decreased expression:serum

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

calcium voltage-gated channel subunit alpha1 B

RGD

NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091

G

caspase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383

G

caveolin 1

DNA:repeats, haplotypes:multiple

RGD

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

Cbl proto-oncogene B

CTD Direct Evidence: marker/mechanism

NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839

G

C-C motif chemokine ligand 1

DNA:SNP:3' utr:c.*136G>A (rs3136682) (human)

RGD

NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159

G

C-C motif chemokine ligand 12

DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human)

RGD

NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780

G

C-C motif chemokine ligand 2

DNA:SNPs, haplotype

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 20

CTD Direct Evidence: marker/mechanism

NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629

G

C-C motif chemokine ligand 5

mRNA:increased expression:brain, frontal cortex (human)

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

C-C motif chemokine ligand 7

mRNA,protein:increased expression:brain
DNA:polymorphism:promoter

RGD

PMID:9655469 PMID:12127674

RGD:6483814, RGD:6483818

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

C-C motif chemokine receptor 3

RGD

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

C-C motif chemokine receptor 5

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

PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More...

RGD:1358460, RGD:8551829

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD24 molecule

RGD

NCBI chr20:47,074,353...47,079,662
Ensembl chr20:47,073,512...47,079,662

G

Cd28 molecule

DNA:SNP:promoter:-372G>A (human)

RGD

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

CD40 molecule

susceptibility

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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD44 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620

G

CD46 molecule

RGD

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

Cd6 molecule

CTD Direct Evidence: marker/mechanism

PMID:19525953 PMID:24076602

NCBI chr 1:207,442,873...207,481,703
Ensembl chr 1:207,442,877...207,481,634

G

CD86 molecule

susceptibility

DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human)

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

CD96 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr11:54,702,290...54,776,618
Ensembl chr11:54,702,290...54,776,621

G

cyclin-dependent kinase 17

CTD Direct Evidence: marker/mechanism

NCBI chr 7:27,683,890...27,765,814
Ensembl chr 7:27,683,890...27,764,910

G

complement factor H

no_association

RGD

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

class II, major histocompatibility complex, transactivator

susceptibility
no_association

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 chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440

G

claudin 11

CTD Direct Evidence: marker/mechanism

NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050

G

C-type lectin domain containing 16A

DNA:polymorphism:intron:g.194570G>A, rs7184083 (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18946483 PMID:19525955 PMID:21653641

NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578

G

cytidine monophospho-N-acetylneuraminic acid hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr17:40,557,161...40,642,350
Ensembl chr17:40,583,667...40,642,275

G

cytidine/uridine monophosphate kinase 2

mRNA:altered expression:PMN cell (human)

RGD

NCBI chr 6:43,073,706...43,085,183
Ensembl chr 6:43,073,796...43,085,183

G

2',3'-cyclic nucleotide 3' phosphodiesterase

RGD

PMID:19473295 PMID:18676363

RGD:6483339, RGD:6483346

NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720

G

cannabinoid receptor 1

CTD Direct Evidence: therapeutic

NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099

G

ciliary neurotrophic factor

onset

RGD

NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877

G

collagen type I alpha 1 chain

mRNA:increased expression:brain

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

cystatin C

protein:decreased expression:cerebrospinal fluid

RGD

PMID:17086443 PMID:12589965

RGD:5686392, RGD:5686394

NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822

G

cytotoxic T-lymphocyte-associated protein 4

no_association

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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

cathepsin B

protein:increased expression:cerebrospinal fluid

RGD

PMID:17086443 PMID:11134381

RGD:5686392, RGD:5686395

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

cathepsin H

RGD

NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824

G

cathepsin L

RGD

NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548

G

cytochrome P450, family 27, subfamily b, polypeptide 1

ClinVar Annotator: match by term: DISSEMINATED SCLEROSIS | ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to

PMID:9837822 PMID:25741868

NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241

G

dynein axonemal assembly factor 11

ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to

PMID:25741868 PMID:28492532

NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837

G

dual specificity phosphatase 28

CTD Direct Evidence: marker/mechanism

NCBI chr 9:93,472,832...93,474,207

G

endothelin 1

protein:increased expression:plasma (human)

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

endoplasmic reticulum to nucleus signaling 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029

G

Fas cell surface death receptor

susceptibility

protein:increased expression:white matter of brain:
DNA:polymorphism:promoter:-670A>G (human)

RGD

PMID:8879222 PMID:12098516

RGD:12903947, RGD:12903986

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

DNA:repeat:promoter:g.-46(CA)11-15 (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:31068361 PMID:11438180

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

Fc gamma receptor 2A

no_association

DNA:polymorphism: :p.H131R (human)

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 3A

disease_progression

protein:increased expression:gamma-delta T cell

RGD

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

gamma-aminobutyric acid type A receptor subunit alpha 3

DNA:repeat::(CA)11-16 (human)

RGD

NCBI chr X:150,244,745...150,501,566
Ensembl chr X:150,261,607...150,501,559

G

GC, vitamin D binding protein

susceptibility
no_association

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 chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567

G

GLI family zinc finger 1

RGD

NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251

G

glutamate metabotropic receptor 8

protein:increased expression:astrocyte, microglia, macrophage

RGD

NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831

G

granulin precursor

protein:increased expression:macrophage, microglia

RGD

NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775

G

glutathione S-transferase mu 1

disease_progression
susceptibility
onset

DNA:deletion: :
DNA:deletion: : (human)
DNA:deletion:: (human)

RGD

PMID:10680782 PMID:17437619 PMID:23932298

RGD:5490267, RGD:12792249, RGD:12792225

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase mu 3

disease_progression

DNA:polymorphism:exon:

RGD

NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475

G

glutathione S-transferase, mu 5

disease_progression

DNA:polymorphism:exon: