RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: autoimmune disease of the nervous system
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 .
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Aldoc
aldolase, fructose-bisphosphate C
ISO
associated with Streptococcal Infections
RGD
PMID:16356555
RGD:2301134
NCBI chr10:63,715,544...63,719,133
Ensembl chr10:63,217,451...63,221,066
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Anxa5
annexin A5
ISO
RGD
PMID:15486486
RGD:10053691
NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369
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Eomes
eomesodermin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27742544
NCBI chr 8:127,059,215...127,067,070
Ensembl chr 8:118,181,777...118,188,316
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Mcam
melanoma cell adhesion molecule
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23595028
NCBI chr 8:53,376,225...53,384,407
Ensembl chr 8:44,479,376...44,487,571
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Ifng
interferon gamma
disease_progression
ISO
protein:increased expression:T cell:
RGD
PMID:11063842
RGD:8157598
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Nefl
neurofilament light chain
disease_progression
ISO
protein:increased expresssion:serum (human)
RGD
PMID:31383792
RGD:127284875
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism, haplotype: :
RGD
PMID:19722042 PMID:22786832
RGD:5147662 , RGD:36049763
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism, haplotype: :
RGD
PMID:19722042 PMID:22786832
RGD:5147662 , RGD:36049763
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Mag
myelin-associated glycoprotein
IEP
protein:decreased expression:optic nerve
RGD
PMID:9820787
RGD:9685300
NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:86,148,228...86,163,656
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Zc3h12a
zinc finger CCCH type containing 12A
disease_progression
ISO
RGD
PMID:26320658
RGD:11534569
NCBI chr 5:142,661,193...142,670,051
Ensembl chr 5:137,376,564...137,385,351
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Adar
adenosine deaminase, RNA-specific
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846 DNA:mutations:exons:
CTD ClinVar MouseDO RGD
PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29221912 PMID:29603717 PMID:31772029 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:35859177 PMID:23001123 More...
RGD:11069491
NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:175,138,403...175,178,282
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Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:35532072 PMID:36586737 More...
NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:109,708,440...109,722,477
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD ClinVar
PMID:24686847 PMID:25741868
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:47,227,364...47,275,456
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Kat5
lysine acetyltransferase 5
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:25741868
NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:202,895,751...202,903,458
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Rnaseh2a
ribonuclease H2, subunit A
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25604658 PMID:25741868 PMID:26182405 PMID:27943079 PMID:28492532 PMID:31069529 PMID:31130681 PMID:33707687 PMID:35551623 PMID:36430958 More...
NCBI chr19:40,091,206...40,100,904
Ensembl chr19:23,186,383...23,196,041
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Rnaseh2b
ribonuclease H2, subunit B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD ClinVar
PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:23165795 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26046366 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:27654912 PMID:27943079 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31664448 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:33258288 PMID:33307271 PMID:33967934 PMID:34042169 PMID:36775013 PMID:37296061 More...
NCBI chr15:40,717,252...40,770,826
Ensembl chr15:36,541,218...36,584,118
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Rnaseh2c
ribonuclease H2, subunit C
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:21177854 PMID:23322642 PMID:24183309 PMID:25604658 PMID:25741868 PMID:28492532 PMID:28739201 PMID:29150899 PMID:29239743 PMID:30315573 PMID:31529068 PMID:32404165 PMID:34302356 More...
NCBI chr 1:212,323,916...212,325,011
Ensembl chr 1:202,894,643...202,897,516
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:22174685 PMID:22461318 PMID:22973040 PMID:23364794 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24445253 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:27943079 PMID:28229507 PMID:28492532 PMID:30275001 PMID:32371413 PMID:32384610 PMID:34492268 PMID:36115319 PMID:36311265 PMID:37152446 More...
NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:145,761,558...145,794,386
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Tldc2
TBC/LysM-associated domain containing 2
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:166,162,315...166,178,881
Ensembl chr 3:145,743,619...145,758,741
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Trex1
three prime repair exonuclease 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
CTD ClinVar MouseDO
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:35532072 PMID:36586737 More...
NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796
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Usp18
ubiquitin specific peptidase 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:154,471,592...154,499,144
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Amigo3
adhesion molecule with Ig like domain 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,620,499...117,622,025
Ensembl chr 8:108,693,060...108,744,555
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Amt
aminomethyltransferase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,859,700...117,866,692
Ensembl chr 8:108,976,472...108,988,126
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Apeh
acylaminoacyl-peptide hydrolase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,652,390...117,661,502
Ensembl chr 8:108,773,794...108,782,933
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Arih2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,175,267...118,234,425
Ensembl chr 8:109,296,738...109,355,852
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Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant
ClinVar
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20392289 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22718116 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23979357 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25500883 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:29859840 PMID:30219631 PMID:31056085 PMID:31069529 PMID:31130681 PMID:31585108 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32483926 PMID:32562694 PMID:32860008 PMID:32877590 PMID:33042144 PMID:33476576 PMID:33504652 PMID:33528079 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:34540776 PMID:35307828 PMID:35456422 PMID:35532072 PMID:35803721 PMID:35879334 PMID:36586737 PMID:36964972 PMID:37171742 PMID:37597066 PMID:37865086 More...
NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:109,708,440...109,722,477
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Bsn
bassoon (presynaptic cytomatrix protein)
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,663,447...117,754,412
Ensembl chr 8:108,788,542...108,875,819
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C8h3orf62
similar to human chromosome 3 open reading frame 62
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,958,583...117,963,137
Ensembl chr 8:109,036,030...109,097,895
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Camkv
CaM kinase-like vesicle-associated
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,505,439...117,519,785
Ensembl chr 8:108,626,821...108,641,169
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Ccdc71
coiled-coil domain containing 71
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,025,192...118,040,143
Ensembl chr 8:109,146,359...109,165,216
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Cdhr4
cadherin-related family member 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,561,206...117,594,456
Ensembl chr 8:108,682,613...108,690,367
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Celsr3
cadherin, EGF LAG seven-pass G-type receptor 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,409,136...118,438,593
Ensembl chr 8:109,530,641...109,558,354
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Cimip7
ciliary microtubule inner protein 7
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,002,336...118,019,337
Ensembl chr 8:109,124,762...109,140,791
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252
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Dag1
dystroglycan 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325
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Dalrd3
DALR anticodon binding domain containing 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,142,009...118,147,082
Ensembl chr 8:109,265,676...109,268,568
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Dclre1c
DNA cross-link repair 1C
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532
NCBI chr17:79,684,988...79,718,399
Ensembl chr17:74,776,935...74,809,186
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Gmppb
GDP-mannose pyrophosphorylase B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,616,029...117,622,866
Ensembl chr 8:108,693,060...108,767,286
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Gnai2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:108,288,401...108,308,979
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Gnat1
G protein subunit alpha transducin 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:108,350,935...108,355,671
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Gpx1
glutathione peroxidase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
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Hyal1
hyaluronidase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,129,311...117,133,162
Ensembl chr 8:108,250,667...108,260,210
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Hyal3
hyaluronidase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,133,028...117,138,663
Ensembl chr 8:108,250,667...108,260,647
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Ifrd2
interferon-related developmental regulator 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,139,612...117,144,834
Ensembl chr 8:108,260,969...108,266,194
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Iho1
interactor of HORMAD1 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,969,099...118,005,724
Ensembl chr 8:109,092,758...109,125,434
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Impdh2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,135,204...118,139,892
Ensembl chr 8:109,256,728...109,261,359
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Inka1
inka box actin regulator 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,552,875...117,554,565
Ensembl chr 8:108,674,263...108,675,953
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Ip6k1
inositol hexakisphosphate kinase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,594,177...117,613,266
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Ip6k2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,362,154...118,388,668
Ensembl chr 8:109,484,310...109,510,166
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Klhdc8b
kelch domain containing 8B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,020,136...118,025,102
Ensembl chr 8:109,141,594...109,146,918
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549
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Lsmem2
leucine-rich single-pass membrane protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,144,498...117,149,300
Ensembl chr 8:108,266,345...108,279,115
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Mir191
microRNA 191
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,142,627...118,142,717
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Mon1a
MON1 homolog A, secretory trafficking associated
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,452,868...117,471,780
Ensembl chr 8:108,574,388...108,593,156
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Mst1
macrophage stimulating 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,646,485...117,652,016
Ensembl chr 8:108,768,839...108,773,416
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Mst1r
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:108,597,299...108,612,455
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Naa80
N(alpha)-acetyltransferase 80, NatH catalytic subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,132,957...117,136,207
Ensembl chr 8:108,253,302...108,257,563
G
Nckipsd
NCK interacting protein with SH3 domain
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,390,121...118,401,121
Ensembl chr 8:109,511,658...109,522,246
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Ndufaf3
NADH:ubiquinone oxidoreductase complex assembly factor 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,139,891...118,141,723
Ensembl chr 8:109,261,363...109,263,194
G
Nicn1
nicolin 1, tubulin polyglutamylase complex subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,854,210...117,860,185
Ensembl chr 8:108,976,464...108,981,067
G
P4htm
prolyl 4-hydroxylase, transmembrane
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,153,158...118,172,199
Ensembl chr 8:109,274,626...109,292,473
G
Pfkfb4
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,522,371...118,565,478
Ensembl chr 8:109,643,937...109,685,634
G
Prkar2a
protein kinase cAMP-dependent type II regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,271,608...118,337,332
Ensembl chr 8:109,395,833...109,455,628
G
Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:109,207,705...109,215,739
G
Qrich1
glutamine-rich 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,095,435...118,135,001
Ensembl chr 8:109,217,376...109,261,359
G
Rbm5
RNA binding motif protein 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,298,866...117,328,107
Ensembl chr 8:108,420,222...108,449,430
G
Rbm6
RNA binding motif protein 6
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,327,607...117,431,397
Ensembl chr 8:108,452,687...108,552,771
G
Rhoa
ras homolog family member A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746
G
Rnaseh2b
ribonuclease H2, subunit B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:25741868
NCBI chr15:40,717,252...40,770,826
Ensembl chr15:36,541,218...36,584,118
G
Rnf123
ring finger protein 123
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,618,776...117,646,400
Ensembl chr 8:108,739,620...108,767,675
G
Sema3b
semaphorin 3B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,150,307...117,161,570
Ensembl chr 8:108,271,666...108,282,919
G
Sema3f
semaphorin 3F
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,236,269...117,265,206
Ensembl chr 8:108,357,629...108,387,083
G
Shisa5
shisa family member 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,569,975...118,584,880
Ensembl chr 8:109,691,522...109,706,408
G
Slc25a20
solute carrier family 25 member 20
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,243,573...118,265,027
Ensembl chr 8:109,365,002...109,386,512
G
Slc26a6
solute carrier family 26 member 6
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,438,110...118,448,271
Ensembl chr 8:109,559,642...109,569,778
G
Slc38a3
solute carrier family 38, member 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,202,534...117,220,310
Ensembl chr 8:108,323,894...108,339,988
G
Tcta
T-cell leukemia translocation altered
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,867,153...117,871,132
Ensembl chr 8:108,988,590...108,991,564
G
Tmem89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,449,870...118,450,764
Ensembl chr 8:109,571,377...109,572,271
G
Traip
TRAF-interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,520,476...117,540,253
Ensembl chr 8:108,641,852...108,661,638
G
Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant
ClinVar OMIM
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20392289 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22718116 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23979357 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25500883 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:29859840 PMID:30219631 PMID:31056085 PMID:31069529 PMID:31130681 PMID:31585108 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32483926 PMID:32562694 PMID:32860008 PMID:32877590 PMID:33042144 PMID:33476576 PMID:33504652 PMID:33528079 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:34540776 PMID:35307828 PMID:35456422 PMID:35532072 PMID:35803721 PMID:35879334 PMID:36586737 PMID:36964972 PMID:37171742 PMID:37597066 PMID:37865086 More...
NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796
G
Uba7
ubiquitin-like modifier activating enzyme 7
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,543,902...117,552,709
Ensembl chr 8:108,665,292...108,674,099
G
Ucn2
urocortin 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,516,111...118,517,660
Ensembl chr 8:109,638,285...109,639,172
G
Uqcrc1
ubiquinol-cytochrome c reductase core protein 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,468,223...118,479,968
Ensembl chr 8:109,589,706...109,601,480
G
Usp19
ubiquitin specific peptidase 19
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,069,227...118,080,283
Ensembl chr 8:109,190,724...109,201,741
G
Usp4
ubiquitin specific peptidase 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:117,912,576...117,957,934
Ensembl chr 8:109,036,099...109,080,427
G
Wdr6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:118,146,608...118,153,024
Ensembl chr 8:109,268,079...109,274,499
G
Rnaseh2b
ribonuclease H2, subunit B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:22882256 PMID:23165795 PMID:24033266 PMID:24183309 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26046366 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26846091 PMID:26860721 PMID:26903602 PMID:27009121 PMID:27654912 PMID:27943079 PMID:28332073 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:29720203 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:30889214 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31664448 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:32488064 PMID:33084218 PMID:33258288 PMID:33307271 PMID:33482855 PMID:33967934 PMID:33981319 PMID:34042169 PMID:35551623 PMID:36775013 PMID:37296061 More...
NCBI chr15:40,717,252...40,770,826
Ensembl chr15:36,541,218...36,584,118
G
Actn3
actinin alpha 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,588,473...211,604,401
Ensembl chr 1:202,159,082...202,175,012
G
Acy3
aminoacylase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,709,238...210,715,258
Ensembl chr 1:201,279,851...201,283,175
G
Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,837,473...210,848,691
Ensembl chr 1:201,407,288...201,419,122
G
Aldh3b1
aldehyde dehydrogenase 3 family, member B1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,574,545...210,605,188
Ensembl chr 1:201,145,309...201,163,921
G
Aldh3b2
aldehyde dehydrogenase 3 family, member B2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,679,749...210,694,187
Ensembl chr 1:201,253,157...201,264,705 Ensembl chr 1:201,253,157...201,264,705
G
Aldh3b3
aldehyde dehydrogenase 3 family, member B3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,617,090...210,629,886
Ensembl chr 1:201,187,962...201,250,204
G
Ankrd13d
ankyrin repeat domain 13D
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,995,012...211,007,430
Ensembl chr 1:201,565,712...201,577,933
G
Ano1
anoctamin 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,180,755...209,329,413
Ensembl chr 1:199,751,439...199,900,069
G
Ap5b1
adaptor related protein complex 5 subunit beta 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,305,612...212,309,643
Ensembl chr 1:202,876,272...202,880,289
G
B4gat1
beta-1,4-glucuronyltransferase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:202,343,240...202,346,065
G
Banf1
barrier to autointegration nuclear assembly factor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,101,523...212,103,568
Ensembl chr 1:202,671,305...202,674,188
G
Bbs1
Bardet-Biedl syndrome 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:202,186,125...202,204,086
G
Bles03
basophilic leukemia expressed protein BLES03
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,163,892...212,166,146
Ensembl chr 1:202,734,555...202,736,804
G
Brms1
BRMS1, transcriptional repressor and anoikis regulator
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,775,142...211,784,411
Ensembl chr 1:202,345,704...202,355,028
G
C1h11orf24
similar to human chromosome 11 open reading frame 24
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,374,426...210,383,191
Ensembl chr 1:200,945,180...200,962,585
G
C1h11orf86
similar to human chromosome 11 open reading frame 86
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,213,429...211,225,624
Ensembl chr 1:201,784,009...201,785,916
G
Cabp2
calcium binding protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,804,111...210,809,941
Ensembl chr 1:201,375,276...201,380,469
G
Cabp4
calcium binding protein 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:201,428,672...201,433,172
G
Capn1
calpain 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,705,219...212,736,134
Ensembl chr 1:203,277,344...203,300,177
G
Carns1
carnosine synthase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,888,520...210,899,311
Ensembl chr 1:201,459,076...201,469,845
G
Catsper1
cation channel, sperm associated 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,072,371...212,081,179
Ensembl chr 1:202,643,038...202,651,824
G
Ccdc85b
coiled-coil domain containing 85B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,192,979...212,193,994
Ensembl chr 1:202,763,631...202,764,703
G
Ccdc87
coiled-coil domain containing 87
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,564,419...211,567,115
Ensembl chr 1:202,134,963...202,138,337
G
Ccnd1
cyclin D1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
G
Ccs
copper chaperone for superoxide dismutase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,543,192...211,564,354
Ensembl chr 1:202,113,804...202,134,915
G
Cd248
CD248 molecule
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,803,052...211,805,616
Ensembl chr 1:202,373,676...202,376,240
G
Cdc42ep2
CDC42 effector protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,631,317...212,640,231
Ensembl chr 1:203,201,873...203,210,897
G
Cdk2ap2
cyclin-dependent kinase 2 associated protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,819,155...210,822,604
Ensembl chr 1:201,391,466...201,393,137
G
Cfl1
cofilin 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587
G
Chka
choline kinase alpha
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,506,069...210,554,753
Ensembl chr 1:201,076,860...201,125,516
G
Clcf1
cardiotrophin-like cytokine factor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:201,507,859...201,517,605
G
Cnih2
cornichon family AMPA receptor auxiliary protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,828,791...211,834,474
Ensembl chr 1:202,399,419...202,405,089
G
Coro1b
coronin 1B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,872,437...210,877,876
Ensembl chr 1:201,443,014...201,448,416
G
Cpt1a
carnitine palmitoyltransferase 1A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:200,565,613...200,627,055
G
Cst6
cystatin E/M
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,084,676...212,086,384
Ensembl chr 1:202,655,322...202,657,030
G
Ctsf
cathepsin F
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,582,169...211,587,917
Ensembl chr 1:202,152,728...202,158,525
G
Ctsw
cathepsin W
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,201,904...212,208,028
Ensembl chr 1:202,772,572...202,775,964
G
Dpf2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:203,183,686...203,198,983
G
Dpp3
dipeptidylpeptidase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,634,067...211,657,898
Ensembl chr 1:202,204,693...202,228,541
G
Drap1
Dr1 associated protein 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,161,107...212,163,833
Ensembl chr 1:202,731,788...202,734,425
G
Efemp2
EGF containing fibulin extracellular matrix protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:202,781,665...202,789,414
G
Ehbp1l1
EH domain binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,423,444...212,444,357
Ensembl chr 1:202,994,118...203,014,270
G
Eif1ad
eukaryotic translation initiation factor 1A domain containing
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,103,715...212,109,015
Ensembl chr 1:202,674,185...202,679,658
G
Fadd
Fas associated via death domain
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,169,245...209,175,423
Ensembl chr 1:199,739,994...199,745,653
G
Fam89b
family with sequence similarity 89, member B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,445,101...212,447,164
Ensembl chr 1:203,015,773...203,017,367
G
Fgf19
fibroblast growth factor 19
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,485,813...209,490,267
Ensembl chr 1:200,056,644...200,060,287
G
Fgf3
fibroblast growth factor 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:200,001,261...200,005,187
G
Fgf4
fibroblast growth factor 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,453,229...209,457,085
Ensembl chr 1:200,024,056...200,025,466
G
Fibp
FGF1 intracellular binding protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,197,216...212,201,732
Ensembl chr 1:202,768,078...202,772,399
G
Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:202,754,529...202,764,930
G
Frmd8
FERM domain containing 8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,572,534...212,593,181
Ensembl chr 1:203,143,218...203,163,870
G
Gal
galanin and GMAP prepropeptide
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,079,709...210,084,572
Ensembl chr 1:200,650,439...200,654,959
G
Gal3st3
galactose-3-O-sulfotransferase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,022,989...212,032,802
Ensembl chr 1:202,593,692...202,603,445
G
Gpr152
G protein-coupled receptor 152
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,865,338...210,867,833
Ensembl chr 1:201,435,884...201,437,443
G
Grk2
G protein-coupled receptor kinase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,010,259...211,031,013
Ensembl chr 1:201,581,480...201,601,582
G
Gstp1
glutathione S-transferase pi 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:200,506,338...200,529,514
G
Kat5
lysine acetyltransferase 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438
NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:202,895,751...202,903,458
G
Kcnk7
potassium two pore domain channel subfamily K member 7
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,419,555...212,422,173
Ensembl chr 1:202,990,198...202,992,872
G
Kdm2a
lysine demethylase 2A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,041,859...211,125,749
Ensembl chr 1:201,612,453...201,680,787
G
Klc2
kinesin light chain 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,843,927...211,854,160
Ensembl chr 1:202,414,557...202,424,672
G
Kmt5b
lysine methyltransferase 5B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,429,672...210,479,042
Ensembl chr 1:201,000,444...201,049,819
G
Lrfn4
leucine rich repeat and fibronectin type III domain containing 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,317,980...211,321,272
Ensembl chr 1:201,888,569...201,891,861
G
Lrp5
LDL receptor related protein 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581
G
Ltbp3
latent transforming growth factor beta binding protein 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975
G
Lto1
LTO1 maturation factor of ABCE1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,502,900...209,510,237
Ensembl chr 1:200,074,253...200,088,061
G
Map3k11
mitogen-activated protein kinase kinase kinase 11
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,404,685...212,417,986
Ensembl chr 1:202,975,353...202,988,652
G
Mrgprd
MAS related GPR family member D
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,908,487...209,917,183
Ensembl chr 1:200,485,189...200,486,148
G
Mrgprf
MAS related GPR family member F
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,893,384...209,902,852
Ensembl chr 1:200,463,973...200,473,660
G
Mrpl11
mitochondrial ribosomal protein L11
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,693,807...211,696,667
Ensembl chr 1:202,264,471...202,267,756
G
Mrpl21
mitochondrial ribosomal protein L21
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,958,693...209,987,393
Ensembl chr 1:200,529,416...200,537,896
G
Mus81
MUS81 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,219,793...212,225,214
Ensembl chr 1:202,790,466...202,795,843
G
Ndufs8
NADH:ubiquinone oxidoreductase core subunit S8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,569,823...210,573,707
Ensembl chr 1:201,140,585...201,144,511
G
Ndufv1
NADH:ubiquinone oxidoreductase core subunit V1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:201,299,985...201,305,466
G
Npas4
neuronal PAS domain protein 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,710,640...211,728,038
Ensembl chr 1:202,281,958...202,286,724
G
Nudt8
nudix hydrolase 8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,723,209...210,724,717
Ensembl chr 1:201,292,619...201,295,224
G
Ovol1
ovo like transcriptional repressor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,284,601...212,296,106
Ensembl chr 1:202,855,265...202,866,831
G
Pacs1
phosphofurin acidic cluster sorting protein 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,866,872...211,998,828
Ensembl chr 1:202,437,505...202,569,473
G
Pc
pyruvate carboxylase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:201,804,267...201,898,380
G
Pcnx3
pecanex 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,380,657...212,402,967
Ensembl chr 1:202,951,322...202,976,561
G
Peli3
pellino E3 ubiquitin protein ligase family member 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,659,416...211,672,280
Ensembl chr 1:202,232,228...202,242,857
G
Pitpnm1
phosphatidylinositol transfer protein, membrane-associated 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,823,568...210,836,989
Ensembl chr 1:201,394,149...201,407,522
G
Pola2
DNA polymerase alpha 2, accessory subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,656,500...212,680,667
Ensembl chr 1:203,203,388...203,251,348
G
Pold4
DNA polymerase delta 4, accessory subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,956,110...210,957,863
Ensembl chr 1:201,526,665...201,528,401
G
Ppp1ca
protein phosphatase 1 catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,914,576...210,918,193
Ensembl chr 1:201,485,085...201,497,327
G
Ppp6r3
protein phosphatase 6, regulatory subunit 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,122,394...210,236,839
Ensembl chr 1:200,693,440...200,807,548
G
Ptprcap
protein tyrosine phosphatase, receptor type, C-associated protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,878,593...210,880,752
Ensembl chr 1:201,449,113...201,451,288
G
Rab1b
RAB1B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,835,133...211,843,408
Ensembl chr 1:202,405,759...202,413,868 Ensembl chr X:202,405,759...202,413,868
G
Rad9a
RAD9 checkpoint clamp component A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,917,970...210,983,038
Ensembl chr 1:201,487,136...201,553,608
G
Rbm14
RNA binding motif protein 14
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,476,298...211,535,077
Ensembl chr 1:202,078,287...202,105,665 Ensembl chr 1:202,078,287...202,105,665
G
Rbm4
RNA binding motif protein 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,507,845...211,516,907
Ensembl chr 1:202,085,279...202,105,380
G
Rbm4b
RNA binding motif protein 4B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,477,337...211,487,428
Ensembl chr 1:202,047,927...202,058,020
G
Rce1
Ras converting CAAX endopeptidase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,328,769...211,345,944
Ensembl chr 1:201,899,358...201,902,484
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484
G
Rhod
ras homolog family member D
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,138,126...211,153,953
Ensembl chr 1:201,708,699...201,722,632
G
Rin1
Ras and Rab interactor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,785,107...211,789,755
Ensembl chr 1:202,355,890...202,362,729
G
Rnaseh2c
ribonuclease H2, subunit C
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:21177854 PMID:23322642 PMID:24183309 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28600438 PMID:28739201 PMID:29150899 PMID:29239743 PMID:29389947 PMID:30315573 PMID:31130681 PMID:31529068 PMID:32404165 PMID:33353557 PMID:34008892 PMID:34055681 PMID:34302356 PMID:36585007 PMID:36836134 PMID:37092250 More...
NCBI chr 1:212,323,916...212,325,011
Ensembl chr 1:202,894,643...202,897,516
G
Rps6kb2
ribosomal protein S6 kinase B2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,880,824...210,887,556
Ensembl chr 1:201,451,265...201,458,078
G
Sart1
spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,119,824...212,128,517
Ensembl chr 1:202,690,459...202,699,136
G
Scyl1
SCY1 like pseudokinase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,475,198...212,489,285
Ensembl chr 1:203,045,741...203,059,533
G
Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,999,777...212,040,686
Ensembl chr 1:202,570,423...202,590,759
G
Sipa1
signal-induced proliferation-associated 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,367,867...212,379,952
Ensembl chr 1:202,938,580...202,950,591
G
Slc25a45
solute carrier family 25, member 45
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,595,536...212,603,786
Ensembl chr 1:203,166,683...203,174,473
G
Slc29a2
solute carrier family 29 member 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,756,588...211,764,561
Ensembl chr 1:202,327,354...202,335,171
G
Snx32
sorting nexin 32
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,231,716...212,248,127
Ensembl chr 1:202,802,394...202,818,743
G
Sptbn2
spectrin, beta, non-erythrocytic 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:202,002,970...202,044,283
G
Ssh3
slingshot protein phosphatase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,986,604...210,994,975
Ensembl chr 1:201,557,169...201,564,753
G
Syt12
synaptotagmin 12
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,158,745...211,189,780
Ensembl chr 1:201,730,371...201,759,609
G
Tbc1d10c
TBC1 domain family, member 10C
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,906,621...210,913,649
Ensembl chr 1:201,477,157...201,564,920
G
Tbx10
T-box transcription factor 10
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,714,992...210,722,089
Ensembl chr 1:201,279,829...201,292,601
G
Tcirg1
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:201,127,034...201,138,742
G
Tesmin
testis expressed metallothionein like protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,059,414...210,077,704
Ensembl chr 1:200,630,144...200,648,433
G
Tigd3
tigger transposable element derived 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,607,772...212,612,683
Ensembl chr 1:203,178,460...203,181,272
G
Tmem134
transmembrane protein 134
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,848,761...210,857,735
Ensembl chr 1:201,419,264...201,431,411
G
Tmem151a
transmembrane protein 151A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,816,773...211,821,558
Ensembl chr 1:202,388,240...202,392,182
G
Top6bl
TOP6B like initiator of meiotic double strand breaks
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,331,973...211,419,015
G
Tpcn2
two pore segment channel 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:209,845,827...209,875,561
Ensembl chr 1:200,416,540...200,446,236
G
Tsga10ip
testis specific 10 interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:212,129,921...212,144,784
Ensembl chr 1:202,700,578...202,714,798
G
Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:210,596,639...210,607,579
Ensembl chr 1:201,152,693...201,178,338
G
Yif1a
Yip1 interacting factor homolog A, membrane trafficking protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,823,921...211,828,437
Ensembl chr 1:202,394,897...202,399,427
G
Zdhhc24
zinc finger, DHHC-type containing 24
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:211,605,163...211,612,267
Ensembl chr 1:202,175,807...202,182,880
G
Znrd2
zinc ribbon domain containing 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:212,447,010...212,448,793
Ensembl chr 1:203,017,682...203,019,465
G
Best2
bestrophin 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,047,191...40,053,216
Ensembl chr19:23,141,602...23,148,339
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225
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Calr
calreticulin
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414
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Dand5
DAN domain BMP antagonist family member 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,231,061...40,245,329
Ensembl chr19:23,334,164...23,339,589
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Dhps
deoxyhypusine synthase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:39,987,328...39,991,418
Ensembl chr19:23,082,448...23,086,881
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Dnase2
deoxyribonuclease 2, lysosomal
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,149,505...40,152,225
Ensembl chr19:23,244,664...23,247,376
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Farsa
phenylalanyl-tRNA synthetase subunit alpha
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,196,255...40,205,830
Ensembl chr19:23,268,869...23,300,980
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Fbxw9
F-box and WD repeat domain containing 9
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:39,995,408...40,002,312
Ensembl chr19:23,090,534...23,097,439
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Gadd45gip1
GADD45G interacting protein 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,225,503...40,228,052
Ensembl chr19:23,320,159...23,323,236
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Gcdh
glutaryl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,168,038...40,174,536
Ensembl chr19:23,263,264...23,269,681
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Get3
guided entry of tail-anchored proteins factor 3, ATPase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,034,675...40,043,064
Ensembl chr19:23,130,109...23,138,193
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Hook2
hook microtubule-tethering protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,056,732...40,075,027
Ensembl chr19:23,151,870...23,164,181
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Ier2
immediate early response 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,399,373...40,400,897
Ensembl chr19:23,494,184...23,499,211
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035
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Klf1
KLF transcription factor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,155,476...40,158,651
Ensembl chr19:23,250,631...23,253,758
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Lyl1
LYL1, basic helix-loop-helix family member
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,356,967...40,359,834
Ensembl chr19:23,452,140...23,455,007
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Man2b1
mannosidase, alpha, class 2B, member 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:39,959,964...39,979,299
Ensembl chr19:23,055,097...23,074,389
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Mast1
microtubule associated serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,121,271...40,149,073
Ensembl chr19:23,207,991...23,244,235
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Nacc1
nucleus accumbens associated 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,373,436...40,391,351
Ensembl chr19:23,468,419...23,486,528
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Nfix
nuclear factor I X
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,259,873...40,356,966
Ensembl chr19:23,355,498...23,448,265
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Prdx2
peroxiredoxin 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,085,788...40,091,083
Ensembl chr19:23,180,930...23,186,194
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Rad23a
RAD23 homolog A, nucleotide excision repair protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,219,235...40,225,543
Ensembl chr19:23,314,797...23,320,695
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Rnaseh2a
ribonuclease H2, subunit A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 PMID:16199547 PMID:16602100 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19486177 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25500883 PMID:25604658 PMID:25735478 PMID:25741868 PMID:26182405 PMID:26467025 PMID:27250579 PMID:27943079 PMID:28492532 PMID:28600779 PMID:28739201 PMID:29239743 PMID:31069529 PMID:31130284 PMID:31130681 PMID:31325311 PMID:31529068 PMID:33165593 PMID:33353557 PMID:33707687 PMID:35551623 PMID:36430958 PMID:37626525 More...
NCBI chr19:40,091,206...40,100,904
Ensembl chr19:23,186,383...23,196,041
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Rtbdn
retbindin
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,102,364...40,112,791
Ensembl chr19:23,197,506...23,204,438
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Syce2
synaptonemal complex central element protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,173,713...40,195,959
Ensembl chr19:23,268,869...23,300,980
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Tnpo2
transportin 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,004,271...40,024,565
Ensembl chr19:23,099,401...23,119,596
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Trir
telomerase RNA component interacting RNase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,029,952...40,033,368
Ensembl chr19:23,125,083...23,128,510
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Trmt1
tRNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:40,361,583...40,374,971
Ensembl chr19:23,456,756...23,466,956
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Wdr83
WD repeat domain 83
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:39,981,890...39,987,443
Ensembl chr19:23,077,010...23,082,563
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Wdr83os
WD repeat domain 83 opposite strand
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:39,980,247...39,981,619
Ensembl chr19:23,075,376...23,076,894
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Blcap
BLCAP, apoptosis inducing factor
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:166,642,676...166,656,924
Ensembl chr 3:146,222,240...146,232,909
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Ctnnbl1
catenin, beta like 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:166,807,899...166,968,932
Ensembl chr 3:146,387,889...146,548,987
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Ghrh
growth hormone releasing hormone
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:166,412,763...166,432,519
Ensembl chr 3:145,992,763...146,011,889
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Manbal
mannosidase beta like
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:166,455,067...166,484,652
Ensembl chr 3:146,035,066...146,064,676
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Mroh8
maestro heat-like repeat family member 8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:166,294,008...166,362,460
Ensembl chr 3:145,873,996...145,942,319
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Nnat
neuronatin
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:166,646,373...166,648,845
Ensembl chr 3:146,226,407...146,228,834
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Rbl1
RB transcriptional corepressor like 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:166,226,187...166,289,862
Ensembl chr 3:145,807,095...145,869,330
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Rpn2
ribophorin II
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:166,361,955...166,409,272
Ensembl chr 3:145,941,839...145,989,543
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24300241 PMID:24316776 PMID:24989684 PMID:25604658 PMID:25640679 PMID:25741868 PMID:26273690 PMID:26431200 PMID:26467025 PMID:26504826 PMID:27071091 PMID:27604406 PMID:27643693 PMID:27943079 PMID:28229507 PMID:28454995 PMID:28492532 PMID:28851465 PMID:29239743 PMID:29379009 PMID:29758562 PMID:30275001 PMID:30487145 PMID:31130681 PMID:31797533 PMID:32371413 PMID:33683010 PMID:33857133 PMID:33967934 PMID:34492268 PMID:35590234 PMID:36311265 PMID:37152446 PMID:39825153 More...
NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:145,761,558...145,794,386
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:146,091,841...146,139,476
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Tldc2
TBC/LysM-associated domain containing 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 3:166,162,315...166,178,881
Ensembl chr 3:145,743,619...145,758,741
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Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6
OMIM ClinVar
PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 PMID:16817193 PMID:17576681 PMID:19017046 PMID:19060901 PMID:20301648 PMID:22974014 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25243380 PMID:25326637 PMID:25456137 PMID:25468572 PMID:25604658 PMID:25741868 PMID:25982145 PMID:26372505 PMID:26629815 PMID:26802932 PMID:26892242 PMID:27937139 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29185800 PMID:29221912 PMID:29536976 PMID:29603717 PMID:29691679 PMID:29775506 PMID:29915444 PMID:30564185 PMID:30755392 PMID:31772029 PMID:32593192 PMID:32801363 PMID:32996714 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:34702576 PMID:35859177 More...
NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:175,138,403...175,178,282
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Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:28008999 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28716935 PMID:29018476 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31178897 PMID:31898846 PMID:32853466 PMID:33440462 PMID:34185153 PMID:34539730 PMID:34975878 PMID:35086391 PMID:35754802 PMID:36703223 PMID:39825153 More...
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:47,227,364...47,275,456
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Lsm11
LSM11, U7 small nuclear RNA associated
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8
OMIM ClinVar
PMID:33230297
NCBI chr10:30,869,168...30,887,275
Ensembl chr10:30,370,727...30,385,944
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Grcc10
gene rich cluster, C10 gene
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9
ClinVar
PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297
NCBI chr 4:159,237,562...159,239,223
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Aqp4
aquaporin 4
ISO
RGD
PMID:20680636
RGD:5148026
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
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Edar
ectodysplasin-A receptor
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
NCBI chr20:27,130,934...27,209,672
Ensembl chr20:26,587,839...26,666,494
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Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452773 PMID:17460694 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18546365 PMID:18991199 PMID:19010300 PMID:19538466 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:22237560 PMID:23430898 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:28958595 PMID:30423451 PMID:30451971 PMID:30634555 PMID:31655921 PMID:33486010 PMID:35478072 More...
NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:133,327,297...133,383,640
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Polg
DNA polymerase gamma, catalytic subunit
susceptibility
ISO IAGP
DNA:mutations:cds: ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy DNA:missense mutation:cds:p.P1073L (3218C>T) (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:
ClinVar CTD OMIM RGD
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 PMID:2504279 PMID:2725645 PMID:7847370 PMID:9500334 PMID:9536098 PMID:11301032 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16682683 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17452773 PMID:17460694 PMID:17502560 PMID:17538929 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19221117 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19500334 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20400524 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20685647 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21167499 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21447491 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22215559 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22377773 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22805437 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22980518 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23430898 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23596069 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23830586 PMID:23836942 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24086434 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24194468 PMID:24259288 PMID:24265579 PMID:24266892 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:24986207 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25129007 PMID:25160553 PMID:25193669 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25412673 PMID:25429852 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25497598 PMID:25525159 PMID:25585994 PMID:25638290 PMID:25660390 PMID:25713120 PMID:25724872 PMID:25741868 PMID:25741916 PMID:25742477 PMID:25771874 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26132555 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26341968 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26640698 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27101133 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27349602 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27475922 PMID:27527004 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27854218 PMID:27917773 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28815208 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29420653 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29590070 PMID:29644085 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:29997391 PMID:30009132 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30385167 PMID:30393377 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30552426 PMID:30609409 PMID:30634555 PMID:30637288 PMID:30678510 PMID:30755392 PMID:30818899 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31075681 PMID:31085725 PMID:31130284 PMID:31147703 PMID:31164858 PMID:31209396 PMID:31359948 PMID:31425757 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31731261 PMID:31762033 PMID:31765440 PMID:31799610 PMID:31843010 PMID:31847883 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32161153 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32347949 PMID:32348839 PMID:32364361 PMID:32382377 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32504279 PMID:32531456 PMID:32567010 PMID:32600829 PMID:32613234 PMID:32668698 PMID:32703289 PMID:32949115 PMID:32964447 PMID:33046616 PMID:33057194 PMID:33233646 PMID:33258288 PMID:33278787 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33484326 PMID:33486010 PMID:33513296 PMID:33528536 PMID:33579567 PMID:33600046 PMID:33671400 PMID:33683010 PMID:33726816 PMID:33763395 PMID:33791913 PMID:33931544 PMID:33956154 PMID:34008892 PMID:34023347 PMID:34052969 PMID:34062649 PMID:34189666 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34445196 PMID:34490615 PMID:34504347 PMID:34504726 PMID:34573359 PMID:34670123 PMID:34690748 PMID:34732400 PMID:34777884 PMID:34782754 PMID:34803902 PMID:34927673 PMID:35101151 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35298342 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35488641 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35760101 PMID:35790454 PMID:35799515 PMID:35811315 PMID:35811324 PMID:35860755 PMID:35861376 PMID:35982159 PMID:36065636 PMID:36099812 PMID:36157077 PMID:36325100 PMID:36332611 PMID:36342673 PMID:36403551 PMID:36658419 PMID:36689859 PMID:36703223 PMID:36703500 PMID:36918699 PMID:36964972 PMID:36987741 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37189790 PMID:37256495 PMID:37301908 PMID:37349538 PMID:37510298 PMID:38012111 PMID:38294884 PMID:38465286 PMID:38693247 PMID:38772265 PMID:38845467 PMID:39118480 PMID:39825153 PMID:15689359 PMID:20142534 PMID:16896309 PMID:22237560 More...
RGD:8694184 , RGD:15039298 , RGD:8694317 , RGD:8694284
NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567
G
Polrmt
RNA polymerase mitochondrial
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:25741868
NCBI chr 7:10,610,149...10,620,411
Ensembl chr 7:9,959,576...9,969,791
G
Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,442,217...26,493,481
G
Rlbp1
retinaldehyde binding protein 1
ISO
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar
PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532
NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:133,308,938...133,322,296
G
Nefh
neurofilament heavy chain
treatment
ISO
RGD
PMID:31313506
RGD:27226816
NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
G
Nefl
neurofilament light chain
treatment
ISO
RGD
PMID:31313506
RGD:27226816
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
G
Nefh
neurofilament heavy chain
severity
ISO
RGD
PMID:23316360
RGD:27226805
NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
G
Mir21
microRNA 21
ameliorates
ISO
RGD
PMID:31228813
RGD:41404699
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
G
RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:polymorphism:HLA-A69
RGD
PMID:28734234
RGD:329961297
NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563
G
Ccl28
C-C motif chemokine ligand 28
ISO
RGD
PMID:19050296
RGD:4890012
NCBI chr 2:53,334,071...53,358,709
Ensembl chr 2:51,601,331...51,625,997
G
Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:sciatic nerve (mouse)
RGD
PMID:19050296
RGD:4890012
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:sural nerve
RGD
PMID:10408538
RGD:13204856
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
G
Ccl2
C-C motif chemokine ligand 2
IEP
mRNA:increased expression:spinal cord (rat)
RGD
PMID:12098510
RGD:8655962
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
G
Nefh
neurofilament heavy chain
ISO
protein:decreased expression:spinal cord:
RGD
PMID:12742652
RGD:27226817
NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
G
Plp1
proteolipid protein 1
ISO
human sequence peptide in a mouse model; associated with Herpesviridae infections
RGD
PMID:12811845
RGD:30296670
NCBI chr X:104,933,921...104,993,317
Ensembl chr X:100,185,767...100,201,032
G
Serpine1
serpin family E member 1
ISO
RGD
PMID:17983428
RGD:13208507
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
G
Chat
choline O-acetyltransferase
susceptibility
ISO ISS
DNA:frameshift mutation, missense mutations (human) ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myasthenia OMIM:254210 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 PMID:12756141 PMID:15381704 PMID:15701560 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19520274 PMID:19900826 PMID:21786365 PMID:21948486 PMID:22678886 PMID:23292760 PMID:24033266 PMID:25741868 PMID:26080897 PMID:26467025 PMID:26789281 PMID:28492532 PMID:28497657 PMID:28991257 PMID:29054425 PMID:29189923 PMID:31127727 PMID:32368696 PMID:33820833 PMID:34431804 PMID:34740919 PMID:34930662 PMID:35253369 PMID:36308527 PMID:38304750 PMID:11172068 More...
RGD:1600831
NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,657,362...7,717,093
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Slc18a3
solute carrier family 18 member A3
ISO
ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar
PMID:21948486 PMID:25741868 PMID:28492532
NCBI chr16:7,719,953...7,722,814
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar
PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 PMID:8730290 PMID:8956040 PMID:9452032 PMID:9829911 PMID:9829912 PMID:10567493 PMID:12000816 PMID:12114495 PMID:14722919 PMID:14767570 PMID:15300849 PMID:18446368 PMID:19270817 PMID:20120764 PMID:21362373 PMID:23842656 PMID:24206762 PMID:24301059 PMID:24707167 PMID:25720320 PMID:25741868 PMID:25867206 PMID:27527340 PMID:27617348 PMID:28492532 More...
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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A2m
alpha-2-macroglobulin
treatment
IDA
RGD
PMID:1710603
RGD:10046021
NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786
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Adam17
ADAM metallopeptidase domain 17
IEP
RGD
PMID:15878627
RGD:1559178
NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:40,872,856...40,920,639
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Adam8
ADAM metallopeptidase domain 8
ISO
RGD
PMID:9670863
RGD:2325244
NCBI chr 1:204,206,206...204,218,988
Ensembl chr 1:194,770,060...194,788,801
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Aif1
allograft inflammatory factor 1
IEP
protein:altered expression:spinal cord (rat)
RGD
PMID:19246105
RGD:2313022
NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668
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Akap12
A-kinase anchoring protein 12
IEP
mRNA,protein:increased expression:spinal cord
RGD
PMID:20155814
RGD:14348972
NCBI chr 1:43,135,515...43,225,245
Ensembl chr 1:40,730,123...40,819,886
G
Alox15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:15328042
RGD:5509618
NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,060,412...55,068,874
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Amigo2
adhesion molecule with Ig like domain 2
severity
ISO
RGD
PMID:28119027
RGD:14392778
NCBI chr 7:130,270,639...130,273,735
Ensembl chr 7:128,390,412...128,394,695
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Anxa1
annexin A1
IEP
protein:increased expression:brain, astrocyte, macrophage
RGD
PMID:9472682
RGD:2306942
NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343
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Apoe
apolipoprotein E
IEP
RGD
PMID:28578430
RGD:13703134
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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Aqp4
aquaporin 4
disease_progression severity
ISO IEP
RGD
PMID:21056916 PMID:23707078 PMID:21157915 PMID:19660138
RGD:5148015 , RGD:8696030 , RGD:5490117 , RGD:5490116
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
G
B2m
beta-2 microglobulin
ISO
RGD
PMID:15837577
RGD:6482690
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
G
B4galt6
beta-1,4-galactosyltransferase 6
ISO
mRNA:increased expression:astrocyte
RGD
PMID:25216636
RGD:14390079
NCBI chr18:12,233,350...12,290,204
Ensembl chr18:11,958,390...12,015,247
G
Bdnf
brain-derived neurotrophic factor
IEP
RGD
PMID:23212569
RGD:10059360
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
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C3
complement C3
IEP
protein:increased expression:cerebrospinal fluid
RGD
PMID:22320401
RGD:7175513
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
G
C6
complement C6
severity
IAGP
RGD
PMID:11970970
RGD:625607
NCBI chr 2:55,573,596...55,648,857
Ensembl chr 2:53,851,985...53,921,275
G
Cacna1b
calcium voltage-gated channel subunit alpha1 B
IEP
RGD
PMID:11353727
RGD:1580151
NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:7,380,922...7,546,091
G
Calca
calcitonin-related polypeptide alpha
no_association
ISO
RGD
PMID:19563774
RGD:5684360
NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105
G
Casp3
caspase 3
IEP
protein:increased activity, increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
G
Casp8
caspase 8
IEP
protein:increased activity, increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
G
Casp9
caspase 9
IEP
protein:increased expression:spinal cord
RGD
PMID:18521931
RGD:2311436
Ensembl chr 5:154,109,046...154,126,626
G
Cav3
caveolin 3
onset
IEP
Protein:increased expression:spinal cord, astrocyte
RGD
PMID:15925413
RGD:1582168
NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137
G
Cblb
Cbl proto-oncogene B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453840
NCBI chr11:62,058,829...62,225,904
Ensembl chr11:48,592,703...48,756,839
G
Ccl1
C-C motif chemokine ligand 1
IEP
mRNA:decreased expression:lymph node
RGD
PMID:19865101
RGD:4145472
NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,128,331...67,131,159
G
Ccl11
C-C motif chemokine ligand 11
IEP
mRNA:increased expression:lymph node
RGD
PMID:19865101
RGD:4145472
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,028,328...67,032,926
G
Ccl2
C-C motif chemokine ligand 2
IEP
mRNA:increased expression:spinal cord mRNA:decreased expression:lymph node mRNA:increased expression:optic chiasma (rat)
RGD
PMID:17666800 PMID:19865101 PMID:11241588
RGD:2307114 , RGD:4145472 , RGD:8548888
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
G
Ccl3
C-C motif chemokine ligand 3
IEP
mRNA:increased expression:spinal cord
RGD
PMID:17666800
RGD:2307114
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938
G
Ccl5
C-C motif chemokine ligand 5
ISO IEP
protein:increased expression:brain (mouse) mRNA:increased expression:spinal cord
RGD
PMID:15833367 PMID:17666800
RGD:4890027 , RGD:2307114
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
G
Ccr1
C-C motif chemokine receptor 1
IEP IMP
RGD
PMID:14655765 PMID:14512166
RGD:5688165 , RGD:5688167
NCBI chr 8:132,433,711...132,439,266
G
Ccr2
C-C motif chemokine receptor 2
IEP
mRNA:increased expression:spinal cord
RGD
PMID:9655467
RGD:632391
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
G
Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:15034073
RGD:6893394
NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990
G
Ccr5
C-C motif chemokine receptor 5
IEP
mRNA:increased expression:spinal cord, macrophage, microglia (rat)
RGD
PMID:17484785
RGD:4890436
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260
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Cd28
Cd28 molecule
IMP
RGD
PMID:16061730
RGD:2307203
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
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Cd4
Cd4 molecule
treatment
IEP IMP
protein:decreased expression:T lymphocyte:
RGD
PMID:9138014 PMID:3097071
RGD:10058963 , RGD:10058968
NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191
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Cd80
Cd80 molecule
IMP
RGD
PMID:9379015
RGD:6902906
NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030
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Cd86
CD86 molecule
resistance disease_progression
ISO IEP
protein:increased expression:spinal cord, blood vessel (rat)
RGD
PMID:10477557 PMID:20451260
RGD:4892227 , RGD:4892207
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
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Ciita
class II, major histocompatibility complex, transactivator
IAGP
RGD
PMID:15821736
RGD:1358146
NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
IDA
RGD
PMID:21107918 PMID:7541143 PMID:10650887
RGD:6483335 , RGD:6483353 , RGD:6483351
NCBI chr10:86,011,504...86,018,063
Ensembl chr10:85,511,160...85,517,720
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Comt
catechol-O-methyltransferase
treatment
ISO
RGD
PMID:25242632
RGD:13450949
NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642
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Cpb2
carboxypeptidase B2
IEP
RGD
PMID:22768796
RGD:7243111
NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556
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Cspg4
chondroitin sulfate proteoglycan 4
ISO IEP
protein:increased expression:spinal cord
RGD
PMID:21679768 PMID:20162860
RGD:5686852 , RGD:5686863
NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:57,264,962...57,300,010
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
RGD
PMID:9379015
RGD:6902906
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
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Ctsc
cathepsin C
IEP
RGD
PMID:843913
RGD:1599653
NCBI chr 1:151,440,860...151,472,430
Ensembl chr 1:142,028,392...142,060,387
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Ctss
cathepsin S
ISO
RGD
PMID:21439785
RGD:5686915
NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483
G
Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:16053521
RGD:4891973
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP IMP
RGD
PMID:16053521 PMID:24706865
RGD:4891973 , RGD:9491767
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014
G
Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:19616545
RGD:7257694
NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425
G
Cxcr3
C-X-C motif chemokine receptor 3
IMP
RGD
PMID:21038468
RGD:5135506
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:66,844,318...66,846,969
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Dab2
DAB adaptor protein 2
disease_progression
IEP
RGD
PMID:21890121
RGD:7243155
NCBI chr 2:57,241,947...57,294,893
Ensembl chr 2:55,514,700...55,567,476
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Dlk1
delta like non-canonical Notch ligand 1
ISO
RGD
PMID:24676147
RGD:150520045
NCBI chr 6:134,192,491...134,199,779
Ensembl chr 6:128,410,316...128,417,522
G
Dll1
delta like canonical Notch ligand 1
ISO
RGD
PMID:17947672
RGD:6482235
NCBI chr 1:64,985,161...64,993,274
Ensembl chr 1:56,312,066...56,320,179
G
Dll4
delta like canonical Notch ligand 4
ameliorates
ISO
RGD
PMID:21813770
RGD:155663662
NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
G
Dusp10
dual specificity phosphatase 10
ISO
RGD
PMID:15306813
RGD:7775013
NCBI chr13:98,145,317...98,183,304
Ensembl chr13:95,614,292...95,651,716
G
Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
disease_progression
IEP
RGD
PMID:19524108
RGD:9685491
NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:239,425,430...239,552,317
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18382691
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
G
Ern1
endoplasmic reticulum to nucleus signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,330,654...91,421,029
G
Esr2
estrogen receptor 2
ISO
RGD
PMID:21565615 PMID:21182085
RGD:5508732 , RGD:5508735
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
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Faslg
Fas ligand
treatment
ISO
RGD
PMID:10944459
RGD:12903984
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
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Fcgr2a
Fc gamma receptor 2A
ISO
RGD
PMID:12576552
RGD:5508383
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
G
Fgf2
fibroblast growth factor 2
IEP
mRNA:increased expression:spinal cord
RGD
PMID:8929896 PMID:9814819
RGD:8655647 , RGD:9831448
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
G
Flt1
Fms related receptor tyrosine kinase 1
treatment
ISO
RGD
PMID:18721816
RGD:10402153
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27742544
NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561
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Ghrh
growth hormone releasing hormone
resistance
ISO
RGD
PMID:21846799
RGD:5687168
NCBI chr 3:166,412,763...166,432,519
Ensembl chr 3:145,992,763...146,011,889
G
Ghrl
ghrelin and obestatin prepropeptide
treatment
IDA
RGD
PMID:19620309
RGD:12905041
NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621
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Gjc2
gap junction protein, gamma 2
ISO
protein:decreased expression:white matter of spinal cord, gap junction (mouse)
RGD
PMID:22461072
RGD:13208593
NCBI chr10:44,462,203...44,470,924
Ensembl chr10:43,962,642...43,970,467
G
Gli1
GLI family zinc finger 1
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251
G
Glud1
glutamate dehydrogenase 1
ISO
mRNA, protein:decreased expression:spinal cord
RGD
PMID:9145307
RGD:6484657
NCBI chr16:9,646,569...9,680,215
Ensembl chr16:9,640,312...9,673,957
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Gpx3
glutathione peroxidase 3
IEP
RGD
PMID:22320401
RGD:7175513
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
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Havcr2
hepatitis A virus cellular receptor 2
ISO IEP
mRNA:increased expression:spinal cord:
RGD
PMID:11823861 PMID:15913792
RGD:9686086 , RGD:9686113
NCBI chr10:31,383,801...31,415,334
Ensembl chr10:30,882,606...30,909,137
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO IMP
RGD
PMID:17085013 PMID:14691063
RGD:5508469 , RGD:5508476
NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703
G
Ifnb1
interferon beta 1
ameliorates treatment exacerbates
ISO IDA IMP
RGD
PMID:9578846 PMID:8955226 PMID:19380780 PMID:18997868
RGD:401854237 , RGD:401854247 , RGD:401854246 , RGD:5147399
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523
G
Ifng
interferon gamma
disease_progression treatment
ISO
RGD
PMID:15661899 PMID:22896638
RGD:7987912 , RGD:10755692
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
G
Igf1
insulin-like growth factor 1
treatment
ISO
human protein in a rat model
RGD
PMID:7541143
RGD:6483353
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
G
Il10
interleukin 10
treatment
IDA
RGD
PMID:23872438
RGD:7364993
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
G
Il10ra
interleukin 10 receptor subunit alpha
IEP
RGD
PMID:12620647
RGD:2316323
NCBI chr 8:54,459,754...54,474,786
Ensembl chr 8:45,563,137...45,578,061
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Il12a
interleukin 12A
ISO
RGD
PMID:12471147
RGD:724447
NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:152,965,769...152,972,734
G
Il12b
interleukin 12B
IEP
mRNA, protein:increased expression:lymph node
RGD
PMID:19233473
RGD:4831840
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903
G
Il13
interleukin 13
severity
ISO
RGD
PMID:18250480 PMID:7523520
RGD:5684366 , RGD:5684367
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
G
Il16
interleukin 16
IMP
RGD
PMID:17641011
RGD:5024940
NCBI chr 1:147,026,852...147,127,177
Ensembl chr 1:137,617,944...137,718,130
G
Il17a
interleukin 17A
treatment
IEP ISO IDA
mRNA, protein:increased expression:lymph node
RGD
PMID:19233473 PMID:16200068 PMID:20003332 PMID:16785554
RGD:4831840 , RGD:9212317 , RGD:4888522 , RGD:4889113
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
G
Il18
interleukin 18
IMP IEP
mRNA:increased expression:spinal cord
RGD
PMID:9834127 PMID:9846824
RGD:4889543 , RGD:4889542
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
G
Il18r1
interleukin 18 receptor 1
IEP
mRNA:increased expression:lymph node
RGD
PMID:19269041
RGD:2311529
NCBI chr 9:50,223,274...50,257,370
Ensembl chr 9:42,727,869...42,760,715
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a rat model
RGD
PMID:7593560
RGD:8551836
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
G
Il21
interleukin 21
IDA
RGD
PMID:18997868
RGD:5147399
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996
G
Il21r
interleukin 21 receptor
no_association disease_progression
ISO
RGD
PMID:18546146 PMID:18353312
RGD:6892939 , RGD:6892940
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522
G
Il22
interleukin 22
IEP
RGD
PMID:19269041
RGD:2311529
NCBI chr 7:55,687,061...55,691,526
Ensembl chr 7:53,801,206...53,806,186
G
Il27
interleukin 27
ISO
protein:decreased expression:blood serum (mouse)
RGD
PMID:33403844
RGD:126790527
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582
G
Il2ra
interleukin 2 receptor subunit alpha
IEP
RGD
PMID:19269041
RGD:2311529
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
G
Il4
interleukin 4
treatment
ISO IEP
RGD
PMID:18239607 PMID:1383385
RGD:7829778 , RGD:8142395
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
G
Il6
interleukin 6
IEP ISO
protein:increased expression:oligodendrocytes (rat)
RGD
PMID:9358769 PMID:23322593
RGD:2307412 , RGD:12791289
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
G
Itga4
integrin subunit alpha 4
treatment susceptibility
IMP IDA
rat bone marrow cells in a mouse model
RGD
PMID:12626659 PMID:18722022
RGD:9698418 , RGD:9698436
NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715
G
Jag1
jagged canonical Notch ligand 1
ISO
RGD
PMID:17947672
RGD:6482235
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
G
Jak2
Janus kinase 2
ISO
RGD
PMID:22066025
RGD:6483041
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189
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Jak3
Janus kinase 3
treatment
IDA
RGD
PMID:25012120
RGD:11533939
NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536
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Kdr
kinase insert domain receptor
ISO
RGD
PMID:19233483
RGD:5684404
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
G
Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
RGD
PMID:25972476
RGD:12910744
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Lrp1
LDL receptor related protein 1
ISO
protein:increased expression:cerebellum, spinal cord
RGD
PMID:19299462
RGD:13800552
NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:63,380,356...63,460,910
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Lta
lymphotoxin alpha
IEP
mRNA:increased expression:spinal cord mRNA:increased expression:brain
RGD
PMID:7593556 PMID:9184655
RGD:1625038 , RGD:4143220
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859
G
Mapt
microtubule-associated protein tau
treatment
IDA
RGD
PMID:15494405
RGD:1358431
NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129
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Mbp
myelin basic protein
ISO
human sequence peptide in a rat model; associated with Herpesviridae infections CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11501064 PMID:15159442 PMID:17884951 PMID:24070732 PMID:16285900 PMID:12811845 More...
RGD:7349334 , RGD:30296670
NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404
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Mdk
midkine
IEP
RGD
PMID:9814819
RGD:9831448
NCBI chr 3:98,356,789...98,358,960
Ensembl chr 3:77,901,158...77,903,130
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Mir146a
microRNA 146a
ISO
mRNA:increased expression:spinal cord (mouse)
RGD
PMID:22660635
RGD:155663483
NCBI chr10:28,349,996...28,350,090
Ensembl chr10:27,848,516...27,848,610
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Mir23b
microRNA 23b
treatment
ISO
mRNA:decreased expression:spinal cord (mouse)
RGD
PMID:22660635 PMID:22660635
RGD:155663483 , RGD:155663483
NCBI chr17:1,819,386...1,819,482
Ensembl chr17:1,813,667...1,813,763
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Mmp2
matrix metallopeptidase 2
IDA
RGD
PMID:19922364
RGD:2325703
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Mmp7
matrix metallopeptidase 7
IEP
RGD
PMID:9549496
RGD:8547909
NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
G
Mmp9
matrix metallopeptidase 9
treatment
IEP ISO
protein:increased expression:multiple tissues
RGD
PMID:9549496 PMID:24797785 PMID:20810258 PMID:22800566
RGD:8547909 , RGD:13204801 , RGD:13204762 , RGD:8547936
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Mobp
myelin-associated oligodendrocyte basic protein
ISO
RGD
PMID:10623862
RGD:27226694
NCBI chr 8:128,747,117...128,777,238
Ensembl chr 8:119,869,626...119,899,563
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Mog
myelin oligodendrocyte glycoprotein
IDA ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12904460 PMID:16931536 PMID:17654737 PMID:17728465 PMID:18566399 PMID:18667803 PMID:21068375 PMID:21317386 PMID:21341682 PMID:23360710 PMID:23547115 PMID:23639249 PMID:30661753 PMID:10384097 PMID:14624757 PMID:14624757 PMID:12799014 More...
RGD:9685372 , RGD:9685375 , RGD:9685375 , RGD:9685373
NCBI chr20:1,514,110...1,528,716
Ensembl chr20:1,513,239...1,523,474
G
Mt1
metallothionein 1
ISO
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr19:10,831,959...10,832,975
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049 Ensembl chr X:10,826,032...10,827,049
G
Mt2
metallothionein 2
ISO
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,832,002...10,832,784
G
Mt3
metallothionein 3
ISO
mRNA:increased expression:brain (mouse)
RGD
PMID:19619133
RGD:6484112
NCBI chr19:10,854,676...10,856,080
Ensembl chr19:10,848,755...10,850,158
G
Ncam1
neural cell adhesion molecule 1
IEP
protein:decreased expression:hippocampus
RGD
PMID:17064783
RGD:40924670
NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:49,865,633...50,166,014
G
Nefl
neurofilament light chain
IEP
protein:increased expression:cerebrospinal fluid, spinal cord
RGD
PMID:16182933
RGD:2299007
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19910389
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
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Ngf
nerve growth factor
IEP
protein, mRNA:increased expression:thalamus and cortex, CNS
RGD
PMID:8866783
RGD:5508386
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
G
Ngfr
nerve growth factor receptor
severity
ISO IEP
mRNA:increased expression:central nervous system
RGD
PMID:16519950 PMID:8866783
RGD:5508312 , RGD:5508386
NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518
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Nos2
nitric oxide synthase 2
ISO
RGD
PMID:21857957
RGD:5509069
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
G
Nr1h2
nuclear receptor subfamily 1, group H, member 2
ISO
RGD
PMID:21266776
RGD:6480877
NCBI chr 1:104,178,483...104,183,863
Ensembl chr 1:95,041,967...95,047,377
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
RGD
PMID:17322387
RGD:4892331
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
IEP
mRNA:increased expression:brain subventricular zone:
RGD
PMID:15589512
RGD:5684777
NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770
G
Olig1
oligodendrocyte transcription factor 1
treatment
ISO
RGD
PMID:24941845
RGD:40902822
NCBI chr11:44,000,450...44,002,592
Ensembl chr11:30,514,379...30,516,521
G
Olig2
oligodendrocyte transcription factor 2
treatment
ISO IEP
RGD
PMID:24941845 PMID:29682587
RGD:40902822 , RGD:40902863
NCBI chr11:43,961,585...43,964,961
Ensembl chr11:30,475,398...30,480,152
G
Pdcd1
programmed cell death 1
susceptibility
ISO
RGD
PMID:24648472
RGD:40818258
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937
G
Pdgfb
platelet derived growth factor subunit B
treatment
IDA
RGD
PMID:16042218
RGD:11080975
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
G
Pdgfra
platelet derived growth factor receptor alpha
treatment
IDA
RGD
PMID:16042218
RGD:11080975
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
G
Pdgfrb
platelet derived growth factor receptor beta
treatment
IDA
RGD
PMID:16042218
RGD:11080975
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:20303183
RGD:6482686
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043
G
Plp1
proteolipid protein 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21068375 PMID:24941845
RGD:40902822
NCBI chr X:104,933,921...104,993,317
Ensembl chr X:100,185,767...100,201,032
G
Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17261635
NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
G
Prf1
perforin 1
ISO
RGD
PMID:20708278
RGD:6482806
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,246,202...29,251,701
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
severity
ISO
RGD
PMID:19486896
RGD:6484540
NCBI chr 2:55,967,766...56,003,450
Ensembl chr 2:54,240,137...54,275,978
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO IEP
protein:increased expression:cerebral cortex, cerebellum, spinal cord protein:increased expression:microglia, macrophage,
RGD
PMID:21667309 PMID:10229132
RGD:5688149 , RGD:5688250
NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO IEP
protein:increased expression:cerebral cortex, cerebellum, spinal cord protein:increased expression:endothelial cell
RGD
PMID:21667309 PMID:10229132
RGD:5688149 , RGD:5688250
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Ptn
pleiotrophin
IEP
mRNA:increased expression:spinal cord (rat)
RGD
PMID:9814819
RGD:9831448
NCBI chr 4:66,260,764...66,342,614
Ensembl chr 4:65,293,734...65,375,456
G
Qki
QKI, KH domain containing RNA binding
IEP
RGD
PMID:22740327
RGD:10045997
NCBI chr 1:52,935,357...53,047,338
Ensembl chr 1:50,387,698...50,498,831
G
Rangrf
RAN guanine nucleotide release factor
IDA
RGD
PMID:8557821
RGD:6771380
NCBI chr10:54,176,325...54,177,696
Ensembl chr10:53,677,467...53,678,840
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Rhoa
ras homolog family member A
severity
IEP
protein:increased expression:microglial cell, brain
RGD
PMID:17983427
RGD:2298887
NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746
G
RT1-Ba
RT1 class II, locus Ba
IMP IDA
RGD
PMID:18050272 PMID:9834080 PMID:16723470
RGD:5147622 , RGD:5147666 , RGD:5147639
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
IMP IDA ISO
RGD
PMID:16723470 PMID:9834080 PMID:16194572
RGD:5147639 , RGD:5147666 , RGD:5147647
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Da
RT1 class II, locus Da
ISO
RGD
PMID:8676084
RGD:5490166
NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,512,911...4,518,455
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RT1-Db1
RT1 class II, locus Db1
ISO
RGD
PMID:16194572
RGD:5147647
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Serpine1
serpin family E member 1
ISO
mRNA,protein:increased expression,increased activity:spinal cord, astrocyte:
RGD
PMID:11733372
RGD:13208549
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Shh
sonic hedgehog signaling molecule
IEP ISO
RGD
PMID:15892298 PMID:18991353
RGD:12801423 , RGD:12801440
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
G
Sigmar1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017
G
Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23547115
NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260
G
Slpi
secretory leukocyte peptidase inhibitor
treatment
IDA
RGD
PMID:22436018
RGD:9999395
NCBI chr 3:173,501,573...173,503,822
Ensembl chr 3:153,082,369...153,084,453
G
Sncb
synuclein, beta
IDA
RGD
PMID:12496452
RGD:730073
NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,846,802...9,855,012
G
Srsf9
serine and arginine rich splicing factor 9
treatment
ISO
RGD
PMID:20616573
RGD:11040805
NCBI chr12:46,938,948...46,945,213
Ensembl chr12:41,275,687...41,284,499
G
Stat1
signal transducer and activator of transcription 1
ISO
RGD
PMID:22066025
RGD:6483041
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540
G
Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22066025 PMID:17878325
RGD:6483041 , RGD:6892946
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
G
Stat4
signal transducer and activator of transcription 4
IEP
RGD
PMID:11240014
RGD:7207888
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540
G
Tgfb1
transforming growth factor, beta 1
IEP
mRNA, protein:increased expression:central nervous system
RGD
PMID:17204936
RGD:2302088
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
G
Tgfb2
transforming growth factor, beta 2
IEP
mRNA, protein:decreased expression:central nervous system
RGD
PMID:17204936
RGD:2302088
NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
G
Timp3
TIMP metallopeptidase inhibitor 3
IEP
protein:increased expression:spinal cord
RGD
PMID:15878627
RGD:1559178
NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839
G
Tlr2
toll-like receptor 2
treatment
IEP
protein:increased expression:spinal cord
RGD
PMID:18644848 PMID:33358978
RGD:2312575 , RGD:597538508
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
treatment
IEP
protein:increased expression:spinal cord
RGD
PMID:18644848 PMID:33358978
RGD:2312575 , RGD:597538508
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
G
Tnf
tumor necrosis factor
treatment
IEP
RGD
PMID:11421579
RGD:12904661
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
G
Vcam1
vascular cell adhesion molecule 1
IDA
RGD
PMID:12196270
RGD:1580348
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
G
Vdr
vitamin D receptor
treatment
ISO
RGD
PMID:21318047 PMID:21287548
RGD:8158064 , RGD:13210791
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
G
Vegfa
vascular endothelial growth factor A
IDA ISO IEP
mRNA:decreased expression:Cerebrospinal Fluid: mRNA,protein:decreased expression:spinal cord:
RGD
PMID:12387457 PMID:17083617 PMID:17083617
RGD:634258 , RGD:7421596 , RGD:7421596
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:20978211
RGD:5685386
NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216
G
Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr14:84,604,623...84,609,707
Ensembl chr14:80,390,643...80,395,693
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Arpc5
actin related protein 2/3 complex, subunit 5
treatment
IEP
RGD
PMID:17997938
RGD:11049469
NCBI chr13:67,454,379...67,463,288
Ensembl chr13:64,887,136...64,913,410
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C3
complement C3
ISO IEP
RGD
PMID:17962462 PMID:147324
RGD:7401263 , RGD:11040804
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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C6
complement C6
susceptibility
IAGP
RGD
PMID:17034580
RGD:1600670
NCBI chr 2:55,573,596...55,648,857
Ensembl chr 2:53,851,985...53,921,275
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Cd40lg
CD40 ligand
treatment
IMP
RGD
PMID:11359850
RGD:8547800
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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Cfb
complement factor B
treatment
IMP
RGD
PMID:25355917
RGD:11041161
NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
G
Chrna1
cholinergic receptor nicotinic alpha 1 subunit
treatment
ISO
RGD
PMID:10606626
RGD:704386
NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:58,454,744...58,469,840
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Ctsl
cathepsin L
IEP
mRNA:increased expression:quadriceps (rat)
RGD
PMID:16365386
RGD:2315588
NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548
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Cxcl10
C-X-C motif chemokine ligand 10
IMP IEP
RGD
PMID:19232748 PMID:15843529
RGD:2311364 , RGD:1598501
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975
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Cxcl9
C-X-C motif chemokine ligand 9
IEP
RGD
PMID:15843529
RGD:1598501
NCBI chr14:16,007,166...16,012,077
Ensembl chr14:15,722,908...15,728,435
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Cxcr3
C-X-C motif chemokine receptor 3
IEP IMP
RGD
PMID:15843529 PMID:19232748
RGD:1598501 , RGD:2311364
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:66,844,318...66,846,969
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Il15
interleukin 15
IEP
protein:increased expression:skeletal muscle
RGD
PMID:11585642
RGD:1626617
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820
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Il23r
interleukin 23 receptor
IEP
mRNA:increased expression:lymph node
RGD
PMID:21193288
RGD:5108250
NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021
G
Il2ra
interleukin 2 receptor subunit alpha
IDA
RGD
PMID:18250419
RGD:2325986
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
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Il4r
interleukin 4 receptor
IEP
protein:increased expression:skeletal muscle
RGD
PMID:19395316
RGD:4889981
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980
G
Musk
muscle associated receptor tyrosine kinase
IDA
RGD
PMID:17081697
RGD:2317084
NCBI chr 5:77,853,560...77,967,653
Ensembl chr 5:73,058,121...73,171,932
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Myog
myogenin
IEP
RGD
PMID:1312030
RGD:9686077
NCBI chr13:48,297,476...48,300,065
Ensembl chr13:45,745,436...45,748,039
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Rapsn
receptor-associated protein of the synapse
IEP
protein:decreased expression:neuromuscular junction
RGD
PMID:19344765
RGD:8549750
NCBI chr 3:97,470,891...97,480,196
Ensembl chr 3:76,983,471...77,024,373
G
Adam8
ADAM metallopeptidase domain 8
ISO
RGD
PMID:9670863
RGD:2325244
NCBI chr 1:204,206,206...204,218,988
Ensembl chr 1:194,770,060...194,788,801
G
Aif1
allograft inflammatory factor 1
IEP
protein:increased expression:spinal cord (rat)
RGD
PMID:15710454
RGD:2313042
NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668
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Anxa1
annexin A1
IEP
protein:increased expression:sciatic nerve
RGD
PMID:10603033
RGD:2306914
NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343
G
App
amyloid beta precursor protein
treatment
IDA
RGD
PMID:28446186
RGD:13782060
NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561
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Cav1
caveolin 1
IEP
protein:increased phosphorylation:sciatic nerve
RGD
PMID:17234162
RGD:2289125
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
G
Ccr1
C-C motif chemokine receptor 1
ISO
protein:increased expression:sciatic nerve, macrophage, T cell
RGD
PMID:20500551
RGD:5688140
NCBI chr 8:132,433,711...132,439,266
G
Cd14
CD14 molecule
severity
IEP
RGD
PMID:19162137
RGD:2312712
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261
G
Cd28
Cd28 molecule
IMP
RGD
PMID:12864982
RGD:2307204
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
G
Cd40
CD40 molecule
IEP
RGD
PMID:17188497
RGD:5491181
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
G
Cd40lg
CD40 ligand
IEP
RGD
PMID:17188497
RGD:5491181
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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Cd59b
CD59b molecule
IEP
protein:increased expression:Schwann cell (rat)
RGD
PMID:10450801
RGD:1600494
NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847
G
Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:18448252
RGD:4891968
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833
G
Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
RGD
PMID:18448252
RGD:4891968
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014
G
Dcc
DCC netrin 1 receptor
IEP
RGD
PMID:16337279
RGD:2314374
NCBI chr18:67,144,272...68,248,159
Ensembl chr18:64,873,898...65,972,740
G
Dhodh
dihydroorotate dehydrogenase
treatment
IMP
RGD
PMID:11522581
RGD:11040446
NCBI chr19:54,460,636...54,483,049
Ensembl chr19:37,558,177...37,591,654
G
Epas1
endothelial PAS domain protein 1
IEP
RGD
PMID:23603807
RGD:10395381
NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228
G
Epo
erythropoietin
IEP
RGD
PMID:20361946
RGD:10400894
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
G
Foxp3
forkhead box P3
IEP
protein:decreased expression:sciatic nerve
RGD
PMID:30464413
RGD:38549576
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
G
Havcr2
hepatitis A virus cellular receptor 2
disease_progression
IEP
mRNA,protein:increased expression:sciatic nerve:
RGD
PMID:21784136
RGD:9686114
NCBI chr10:31,383,801...31,415,334
Ensembl chr10:30,882,606...30,909,137
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
RGD
PMID:23603807
RGD:10395381
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
disease_progression
IMP
RGD
PMID:17286627
RGD:5508466
NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703
G
Ifnb1
interferon beta 1
ameliorates
IDA
RGD
PMID:10494101
RGD:401854240
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523
G
Il17a
interleukin 17A
ISO IEP
mRNA, protein:increased expression:sciatic nerve, inguinal lymph node
RGD
PMID:10785455 PMID:19207263
RGD:4888513 , RGD:4831923
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
G
Il1b
interleukin 1 beta
treatment
IEP
RGD
PMID:18400050
RGD:7401218
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
G
Il5
interleukin 5
treatment
IDA
RGD
PMID:22310911
RGD:11522768
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213
G
Mmp7
matrix metallopeptidase 7
IEP
RGD
PMID:9546322
RGD:9685357
NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
G
Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:9546322
RGD:9685357
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
G
Nos2
nitric oxide synthase 2
IEP
protein:increased expression:nerve root, leukocyte, Schwann cell (rat)
RGD
PMID:15144861
RGD:1580265
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
G
Ptgs1
prostaglandin-endoperoxide synthase 1
IEP
protein:increased expression:
RGD
PMID:12916703
RGD:5688236
NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
protein:increased expression:
RGD
PMID:12916703
RGD:5688236
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Rhoa
ras homolog family member A
IEP
protein:increased expression:spinal ganglion, macrophage, T cell
RGD
PMID:17367505
RGD:1642966
NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746
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Spp1
secreted phosphoprotein 1
IDA
RGD
PMID:15531104
RGD:1581323
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
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Tlr2
toll-like receptor 2
severity
IEP
RGD
PMID:19162137
RGD:2312712
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
IEP
mRNA:increased expression:multiple tissues
RGD
PMID:18434754
RGD:2312677
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
IEP
mRNA:increased expression:multiple tissues
RGD
PMID:18434754
RGD:2312677
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
treatment
IEP
RGD
PMID:18400050
RGD:7401218
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Trem1
triggering receptor expressed on myeloid cells 1
ameliorates
IDA IEP
mRNA:increased expression:sciatic nerve,peripheral blood mononuclar cell
RGD
PMID:28260057 PMID:28260057
RGD:127284841 , RGD:127284841
NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:12,763,819...12,779,203
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Car1
carbonic anhydrase 1
ISO
RGD
PMID:26034078
RGD:408425976
NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:86,861,897...86,872,208
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Cat
catalase
treatment
ISO
protein:decreased activity:blood: protein:increased activity:plasma:
RGD
PMID:20394549 PMID:15158621
RGD:9071200 , RGD:9086875
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:18284633
RGD:8549459
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
severity no_association
ISO
associated with Graves Disease; DNA:SNP:promoter:-318C>T (human) protein:increased expression:serum:
RGD
PMID:16893393 PMID:19734241 PMID:22663548
RGD:7421511 , RGD:7421523 , RGD:7421521
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
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Icam1
intercellular adhesion molecule 1
ISO
DNA:polymorphism: :c.1405A>G (human)
RGD
PMID:14557478
RGD:8158124
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Igf1
insulin-like growth factor 1
ISO
mRNA,protein:increased expression,increased excretion:orbital tissue:
RGD
PMID:22159761
RGD:8548854
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-819C>T (human) protein:increased expression:serum
RGD
PMID:21067483 PMID:11753760
RGD:7364859 , RGD:7365083
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Il18
interleukin 18
treatment
ISO
RGD
PMID:12689659
RGD:8655878
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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Il1rn
interleukin 1 receptor antagonist
severity susceptibility
ISO
protein:increased expression:serum (human) DNA:snp:exon:11100 C>T (rs315952) (human)
RGD
PMID:12186498 PMID:19702713
RGD:7387296 , RGD:8549808
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISO
RGD
PMID:2786308
RGD:8662939
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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Il23r
interleukin 23 receptor
no_association susceptibility
ISO
DNA:SNPs: :rs10889677,rs2201841(human) DNA:SNPs: :rs2201841,rs10889677(human)
RGD
PMID:22663548 PMID:18073300
RGD:7421521 , RGD:8549554
NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021
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Il3
interleukin 3
ISO
DNA: SNP: : rs40401
RGD
PMID:20332709
RGD:5686901
NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,405,716...38,408,066
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Kif1a
kinesin family member 1A
ISO
RGD
PMID:26451909
RGD:12911230
NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:14588098
RGD:8552818
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human)
RGD
PMID:17608818
RGD:7829763
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr 1:253,218,968...253,232,101
Ensembl chr 1:243,269,747...243,282,562
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Serpine1
serpin family E member 1
severity
ISO
associated with Graves Disease;protein:increased expression:tears (human)
RGD
PMID:22385289
RGD:8547756
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:-238G>A (rs361525) (human) DNA:SNP:promoter:-863C>A (human)
RGD
PMID:15219383 PMID:16191343 PMID:8444271
RGD:7365073 , RGD:12904066 , RGD:7794734
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tshr
thyroid stimulating hormone receptor
severity
ISO
DNA:SNP:intron:rs179247 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31705858 PMID:22673349 PMID:20237164
RGD:8548662 , RGD:8548673
NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:110,341,581...110,474,538
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Aire
autoimmune regulator
ISS
OMIM:139393
MouseDO
NCBI chr20:10,635,775...10,650,709
Ensembl chr20:10,636,123...10,651,060
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:18343991
RGD:5685658
NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469
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Ccl2
C-C motif chemokine ligand 2
disease_progression
ISO
protein:increased expression:plasma (human)
RGD
PMID:12507779
RGD:8549645
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Cd86
CD86 molecule
ISS
OMIM:139393
MouseDO
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
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Cst3
cystatin C
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:11134381
RGD:5686395
NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822
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Ctsb
cathepsin B
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:11134381
RGD:5686395
NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209
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Hcrt
hypocretin neuropeptide precursor
ISO
RGD
PMID:15623725
RGD:1600925
NCBI chr10:86,190,289...86,191,524
Ensembl chr10:85,689,465...85,691,210
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Pmp22
peripheral myelin protein 22
ISO
ClinVar Annotator: match by term: Guillain-Barre syndrome, familial CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12402337 PMID:20516806 PMID:21149811 PMID:21252112 PMID:23965407 PMID:25429913 PMID:25741868 PMID:26392352 PMID:26467025 PMID:28286897 PMID:28492532 PMID:28981955 PMID:29653220 PMID:31393079 PMID:32538861 PMID:32719652 PMID:35027655 More...
NCBI chr10:48,294,932...48,324,941
Ensembl chr10:47,795,709...47,825,714
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISS
MouseDO
NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225
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Cacna1b
calcium voltage-gated channel subunit alpha1 B
ISO
RGD
PMID:16289869
RGD:1626312
NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:7,380,922...7,546,091
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Chrm1
cholinergic receptor, muscarinic 1
ISO
RGD
PMID:17764462
RGD:5133415
NCBI chr 1:214,996,180...215,012,136
Ensembl chr 1:205,567,220...205,582,356
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Fcgr3a
Fc gamma receptor 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
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Ina
internexin neuronal intermediate filament protein, alpha
severity
ISO
RGD
PMID:20559547
RGD:40886275
NCBI chr 1:255,838,129...255,849,680
Ensembl chr 1:245,896,775...245,908,330
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
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Selp
selectin P
ISO
RGD
PMID:20179168
RGD:6478687
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845
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A2m
alpha-2-macroglobulin
ISO
RGD
PMID:11498265
RGD:1549857
NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786
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Acan
aggrecan
ISO
protein:altered expression:central nervous system, plaque (human)
RGD
PMID:11764092
RGD:2315836
NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627
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Ache
acetylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:20714168
RGD:5686885
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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Ager
advanced glycosylation end product-specific receptor
susceptibility
ISO
DNA:polymorphism:cds:p.G82S rs2070600 (human)
RGD
PMID:21511691
RGD:6767562
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
ISO
protein:decreased expression:brain,astrocyte:
RGD
PMID:17715340
RGD:13432361
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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Aim2
absent in melanoma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr13:88,397,516...88,439,325
Ensembl chr13:85,866,284...85,906,975
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Apoa1
apolipoprotein A1
ISO
protein:increased expression: serum
RGD
PMID:20350318
RGD:5508215
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
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Apoc2
apolipoprotein C2
ISO
RGD
PMID:10335523
RGD:1358408
NCBI chr 1:88,457,397...88,462,365
Ensembl chr 1:79,329,428...79,334,476
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15048896 PMID:15118671
RGD:1331525
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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B4galt5
beta-1,4-galactosyltransferase 5
ISO
mRNA:increased expression:white matter
RGD
PMID:25216636
RGD:14390079
NCBI chr 3:176,437,073...176,453,001
Ensembl chr 3:156,018,053...156,070,074
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B4galt6
beta-1,4-galactosyltransferase 6
ISO
mRNA:increased expression:white matter
RGD
PMID:25216636
RGD:14390079
NCBI chr18:12,233,350...12,290,204
Ensembl chr18:11,958,390...12,015,247
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20122907
NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148
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Bcl2l2
Bcl2-like 2
ISO
mRNA:decreased expression:brain:
RGD
PMID:24270187
RGD:14394512
NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624
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Bdnf
brain-derived neurotrophic factor
onset
ISO
protein:decreased expression:serum
RGD
PMID:20656764
RGD:5684915
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
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Cacna1b
calcium voltage-gated channel subunit alpha1 B
ISO
RGD
PMID:11353727
RGD:1580151
NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:7,380,922...7,546,091
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Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:2,587,831...2,597,383
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Cav1
caveolin 1
ISO
DNA:repeats, haplotypes:multiple
RGD
PMID:19828204
RGD:8661778
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
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Cblb
Cbl proto-oncogene B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453840
NCBI chr11:62,058,829...62,225,904
Ensembl chr11:48,592,703...48,756,839
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Ccl1
C-C motif chemokine ligand 1
ISO
DNA:SNP:3' utr:c.*136G>A (rs3136682) (human)
RGD
PMID:19865101
RGD:4145472
NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,128,331...67,131,159
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Ccl12
C-C motif chemokine ligand 12
ISO
DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human)
RGD
PMID:19865101
RGD:4145472
NCBI chr10:67,567,876...67,569,426
Ensembl chr10:67,070,230...67,071,780
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Ccl2
C-C motif chemokine ligand 2
ISO
DNA:SNPs, haplotype
RGD
PMID:19865101
RGD:4145472
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:brain, frontal cortex (human)
RGD
PMID:11091283
RGD:4890028
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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Ccl7
C-C motif chemokine ligand 7
ISO
mRNA,protein:increased expression:brain DNA:polymorphism:promoter
RGD
PMID:9655469 PMID:12127674
RGD:6483814 , RGD:6483818
NCBI chr10:67,514,095...67,515,945
Ensembl chr10:67,016,446...67,018,303
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:21427490
RGD:6892919
NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
ISO
DNA:frameshift mutation:CDS:p.S185_T195del (rs333) (human) ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression protein:increased expression:blood, cerebrospinal fluid
ClinVar RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:28492532 PMID:12451219 PMID:12111306 More...
RGD:1358460 , RGD:8551829
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260
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Cd109
CD109 molecule
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
NCBI chr 8:88,334,736...88,449,463
Ensembl chr 8:79,454,480...79,569,194
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Cd24
CD24 molecule
ISO
RGD
PMID:14657362
RGD:1358462
NCBI chr20:48,655,549...48,661,786
Ensembl chr20:47,073,512...47,079,662
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Cd28
Cd28 molecule
ISO
DNA:SNP:promoter:-372G>A (human)
RGD
PMID:14975605
RGD:1358478
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
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Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) CTD Direct Evidence: marker/mechanism DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human)
CTD RGD
PMID:19525955 PMID:20634952 PMID:20190274
RGD:5490971 , RGD:5490975
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd44
CD44 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
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Cd46
CD46 molecule
ISO
RGD
PMID:21177319
RGD:6483460
NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445
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Cd6
Cd6 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525953 PMID:24076602
NCBI chr 1:216,867,767...216,906,642
Ensembl chr 1:207,442,877...207,481,634
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Cd86
CD86 molecule
susceptibility
ISO
DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human)
RGD
PMID:26531698
RGD:11354964
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
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Cd96
CD96 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr11:68,164,926...68,239,266
Ensembl chr11:54,702,290...54,776,621
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Cdk17
cyclin-dependent kinase 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 7:29,570,982...29,677,613
Ensembl chr 7:27,683,890...27,764,910
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Cfh
complement factor H
no_association
ISO
RGD
PMID:21618592
RGD:5684555
NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
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Ciita
class II, major histocompatibility complex, transactivator
susceptibility no_association
ISO
DNA:polymorphism:exon:c.1632G>C, rs4774 (human) DNA:polymorphism:promoter:-168A>G (human) DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)
RGD
PMID:21653641 PMID:15821736 PMID:16426246
RGD:5491175 , RGD:1358146 , RGD:5491189
NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440
G
Cldn11
claudin 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25911099
NCBI chr 2:114,136,234...114,149,539
Ensembl chr 2:112,207,745...112,221,050
G
Clec16a
C-type lectin domain containing 16A
ISO
DNA:polymorphism:intron:g.194570G>A, rs7184083 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18946483 PMID:19525955 PMID:21653641
RGD:5491175
NCBI chr10:5,434,725...5,631,246
Ensembl chr10:4,928,030...5,123,578
G
Cmah
cytidine monophospho-N-acetylneuraminic acid hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr17:40,985,129...41,070,317
Ensembl chr17:40,583,667...40,642,275
G
Cmpk2
cytidine/uridine monophosphate kinase 2
ISO
mRNA:altered expression:PMN cell (human)
RGD
PMID:20136355
RGD:5133255
NCBI chr 6:48,802,150...48,813,652
Ensembl chr 6:43,073,796...43,085,183
G
Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
RGD
PMID:19473295 PMID:18676363
RGD:6483339 , RGD:6483346
NCBI chr10:86,011,504...86,018,063
Ensembl chr10:85,511,160...85,517,720
G
Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12876144
NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099
G
Cntf
ciliary neurotrophic factor
onset
ISO
RGD
PMID:11890844
RGD:1626112
NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:209,887,854...209,889,877
G
Col1a1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:brain
RGD
PMID:20456365
RGD:5688302
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
G
Cst3
cystatin C
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:17086443 PMID:12589965
RGD:5686392 , RGD:5686394
NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
no_association
ISO
DNA:SNP:CDS:49A>G (human) DNA:SNPs: :rs3087243,rs11571302(human)
RGD
PMID:17942509 PMID:19740340 PMID:10082437
RGD:2301975 , RGD:7411672 , RGD:1358538
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
G
Ctsb
cathepsin B
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:17086443 PMID:11134381
RGD:5686392 , RGD:5686395
NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500
G
Ctsh
cathepsin H
ISO
RGD
PMID:17086443
RGD:5686392
NCBI chr 8:99,488,756...99,507,639
Ensembl chr 8:90,608,941...90,627,824
G
Ctsl
cathepsin L
ISO
RGD
PMID:17086443
RGD:5686392
NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548
G
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: DISSEMINATED SCLEROSIS | ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
PMID:9837822 PMID:20926527 PMID:25741868 PMID:28492532
NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:62,871,297...62,876,241
G
Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:100,033,843...100,134,979
Ensembl chr 7:98,144,763...98,245,837
G
Dst
dystonin
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
PMID:25741868 PMID:25790160 PMID:28492532
NCBI chr 9:43,631,716...44,025,535
Ensembl chr 9:36,135,284...36,529,615
G
Dusp28
dual specificity phosphatase 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 9:100,920,249...100,921,624
G
Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:12646761
RGD:8661710
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
G
Ern1
endoplasmic reticulum to nucleus signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,330,654...91,421,029
G
Fas
Fas cell surface death receptor
susceptibility
ISO
protein:increased expression:white matter of brain: DNA:polymorphism:promoter:-670A>G (human)
RGD
PMID:8879222 PMID:12098516
RGD:12903947 , RGD:12903986
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
ISO
DNA:repeat:promoter:g.-46(CA)11-15 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31068361 PMID:11438180
RGD:1358622
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
G
Fcgr2a
Fc gamma receptor 2A
no_association
ISO
DNA:polymorphism: :p.H131R (human)
RGD
PMID:12864991
RGD:5147977
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
G
Fcgr3a
Fc gamma receptor 3A
disease_progression
ISO
protein:increased expression:gamma-delta T cell
RGD
PMID:18155780
RGD:5508375
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
G
Gabra3
gamma-aminobutyric acid type A receptor subunit alpha 3
ISO
DNA:repeat::(CA)11-16 (human)
RGD
PMID:9561979
RGD:1358628
NCBI chr X:155,301,979...155,543,870
Ensembl chr X:150,261,607...150,501,559
G
Gc
GC, vitamin D binding protein
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:cerebrospinal fluid protein:increased expression:plasma: DNA:SNPs:exon:p.T420K, D416E(human)
CTD RGD
PMID:25590278 PMID:12137326 PMID:18807170 PMID:19324981 PMID:12044990
RGD:5509885 , RGD:5509923 , RGD:5509922 , RGD:5509887
NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567
G
Gli1
GLI family zinc finger 1
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251
G
Grm8
glutamate metabotropic receptor 8
ISO
protein:increased expression:astrocyte, microglia, macrophage
RGD
PMID:15589052
RGD:6771187
NCBI chr 4:56,771,247...57,696,951
Ensembl chr 4:55,805,955...56,730,831
G
Grn
granulin precursor
ISO
protein:increased expression:macrophage, microglia
RGD
PMID:21613335
RGD:5509591
NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775
G
Gstm1
glutathione S-transferase mu 1
disease_progression susceptibility onset
ISO
DNA:deletion: : DNA:deletion: : (human) DNA:deletion:: (human)
RGD
PMID:10680782 PMID:17437619 PMID:23932298
RGD:5490267 , RGD:12792249 , RGD:12792225
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
G
Gstm3
glutathione S-transferase mu 3
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:10680782
RGD:5490267
NCBI chr 2:198,295,442...198,300,742
Ensembl chr 2:195,607,289...195,612,475
G
Gstm5
glutathione S-transferase, mu 5
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:10680782
RGD:5490267
NCBI chr 2:198,219,769...198,222,732
Ensembl chr 2:195,531,495...195,534,553
G
Gstp1
glutathione S-transferase pi 1
disease_progression
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:10680782
RGD:5490267
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
no_association
ISO
DNA:deletion:: (human)
RGD
PMID:23932298 PMID:10680782
RGD:12792225 , RGD:5490267
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
G
H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
ISO
DNA:SNP:exon: rs17368528 (human)
RGD
PMID:19935835
RGD:6784513
NCBI chr 5:165,717,456...165,753,158
Ensembl chr 5:160,438,697...160,470,171
G
Hdac1
histone deacetylase 1
ISO
protein:increased expression:cytoplasm:
RGD
PMID:20037577
RGD:9590131
NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111
G
Hsp90ab1
heat shock protein 90 alpha family class B member 1
ISO
RGD
PMID:14688203
RGD:5686803
NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:15,433,691...15,438,488
G
Hspa8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression: cerebrospinal fluid
RGD
PMID:16303141
RGD:6480236
NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259
G
Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
G
Ifnb1
interferon beta 1
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 PMID:15389896 More...
RGD:401854232
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523
G
Ifng
interferon gamma
susceptibility
ISO
DNA:repeat:intron: (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23517930 PMID:9818947
RGD:1358738
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
G
Igf2
insulin-like growth factor 2
ISO
protein:increased expression:macrophage
RGD
PMID:10417663
RGD:5510017
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23517930
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
G
Il12a
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:152,965,769...152,972,734
G
Il13
interleukin 13
severity
ISO
protein:increased expression:serum protein:increased expression:cerebrospinal fluid
RGD
PMID:22031307 PMID:21677024
RGD:5684368 , RGD:8549589
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
G
Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23517930 PMID:21455110
RGD:8698672
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
G
Il1b
interleukin 1 beta
severity
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:15210533 PMID:25458313 PMID:10025794
RGD:1358741
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
G
Il21r
interleukin 21 receptor
ISO
DNA:polymorphisms: :
RGD
PMID:20072140 PMID:21281812
RGD:6892695 , RGD:6892963
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522
G
Il23r
interleukin 23 receptor
no_association
ISO
DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human) DNA:SNPs: :rs2201841,rs10889677,s7517847(human)
RGD
PMID:18368064 PMID:24547735
RGD:8549631 , RGD:8549632
NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021
G
Il2ra
interleukin 2 receptor subunit alpha
ISO
DNA:SNPs: :multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602 PMID:19125193
RGD:2311526
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
G
Il4
interleukin 4
onset
ISO
DNA:repeat:intron 3:allele B1 (human)
RGD
PMID:9184650
RGD:1358745
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
G
Il4r
interleukin 4 receptor
ISO
RGD
PMID:14712310
RGD:4890395
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980
G
Il6
interleukin 6
severity treatment
ISO
DNA:polymorphism:promoter:-572 G>C(human) DNA:polymorphism:promoter:-174G>C(human)
RGD
PMID:23202972 PMID:24155968 PMID:26285213
RGD:12791288 , RGD:12792202 , RGD:11079567
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
G
Il7
interleukin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17660816
NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:94,234,766...94,280,075
G
Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3
CTD ClinVar
PMID:17660530 PMID:17660816 PMID:17660817 PMID:19525955 PMID:21664875 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 PMID:27577878 PMID:28436970 PMID:28492532 PMID:32576985 PMID:32765500 More...
NCBI chr 2:60,179,561...60,204,937
Ensembl chr 2:58,454,217...58,477,757
G
Irf5
interferon regulatory factor 5
susceptibility
ISO
DNA:SNPs: :rs3807306, rs4728142 (human)
RGD
PMID:25392335 PMID:20861862
RGD:11055911 , RGD:40924643
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267
G
Irf8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525953
NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829
G
Itgb4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
PMID:28492532
NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012
G
Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
PMID:25741868 PMID:26467025 PMID:27001614 PMID:28008999 PMID:28492532
NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
G
Jag1
jagged canonical Notch ligand 1
disease_progression
ISO
RGD
PMID:20805994 PMID:16934875
RGD:6482233 , RGD:6482240
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
G
Jarid2
jumonji and AT-rich interaction domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr17:19,983,217...20,163,598
Ensembl chr17:19,777,266...19,955,690
G
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24070676
NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461
G
Kif1b
kinesin family member 1B
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:snp:intron:c.1590+932T>C (rs10492972) (human)
CTD RGD
PMID:18997785 PMID:20502484 PMID:18997785
RGD:12738463 , RGD:12738462
NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778
G
Kif5a
kinesin family member 5A
susceptibility
ISO
DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
RGD
PMID:20508602
RGD:12793067
NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858
G
Klhl6
kelch-like family member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr11:94,475,262...94,514,653
Ensembl chr11:80,970,917...81,009,677
G
Klk6
kallikrein related-peptidase 6
ISO
RGD
PMID:11802715
RGD:2314867
NCBI chr 1:103,415,411...103,422,682
Ensembl chr 1:94,280,340...94,286,121
G
Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
PMID:28492532
NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:167,270,296...167,318,451
G
Lamb1
laminin subunit beta 1
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:47,835,525...47,902,585
G
Lrch1
leucine rich repeats and calponin homology domain containing 1
ISS
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
MouseDO
NCBI chr15:56,469,403...56,659,201
Ensembl chr15:50,071,947...50,249,657
G
Lrrc8c
leucine rich repeat containing 8 VRAC subunit C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr14:4,528,721...4,621,259
Ensembl chr14:4,227,832...4,315,249
G
Mag
myelin-associated glycoprotein
ISO
RGD
PMID:2419505
RGD:9685292
NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:86,148,228...86,163,656
G
Mbp
myelin basic protein
ISO
RGD
PMID:1691612
RGD:1358488
NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404
G
Mcam
melanoma cell adhesion molecule
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23595028
NCBI chr 8:53,376,225...53,384,407
Ensembl chr 8:44,479,376...44,487,571
G
Mmp12
matrix metallopeptidase 12
susceptibility
ISO
DNA:SNP:promoter:-82A>G (human)
RGD
PMID:19628284
RGD:13204795
NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611
G
Mmp9
matrix metallopeptidase 9
no_association susceptibility
ISO
mRNA:increased expression:blood, mononuclear cell DNA:SNP, repeat:promoter:-1562C>T (human) DNA:repeat, SNP:promoter DNA:SNP:promoter:-1562C>T (human)
RGD
PMID:23401127 PMID:20471697 PMID:10713364 PMID:19628284
RGD:13204754 , RGD:13204848 , RGD:13204826 , RGD:13204795
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
G
Mog
myelin oligodendrocyte glycoprotein
ISO
RGD
PMID:17142321
RGD:9685374
NCBI chr20:1,514,110...1,528,716
Ensembl chr20:1,513,239...1,523,474
G
Mphosph9
M-phase phosphoprotein 9
susceptibility
ISO
DNA:snp:intron:122222678G>T rs1790100 (human)
RGD
PMID:19879194
RGD:2316985
NCBI chr12:37,936,442...38,007,053
Ensembl chr12:32,275,558...32,342,392
G
Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
DNA:transition:cds:m.9055A>G (human) DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human)
RGD
PMID:18708297 PMID:17619138
RGD:5490259 , RGD:5490263
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
G
Mt-atp8
mitochondrially encoded ATP synthase membrane subunit 8
ISO
DNA:point mutation: :m.8406C>T (human)
RGD
PMID:17619138
RGD:5490263
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
G
Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:amplification:cds:cerebral gray matter (human)
RGD
PMID:18566918
RGD:5490252
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
G
Mt-nd2
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
ISO
DNA:SNP::m.4917A>G (human)
RGD
PMID:18708297
RGD:5490259
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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Nabp1
nucleic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 9:57,570,326...57,625,926
Ensembl chr 9:50,126,726...50,134,107
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Ndufs2
NADH:ubiquinone oxidoreductase core subunit S2
ISO
RGD
PMID:18682780
RGD:6482255
NCBI chr13:86,186,867...86,203,914
Ensembl chr13:83,654,406...83,671,420
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Nectin2
nectin cell adhesion molecule 2
severity no_association
ISO
DNA:polymorphism:intron:c.89-104C>T (rs394221) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple
CTD RGD
PMID:16738668 PMID:16738668 PMID:17376543
RGD:6767558 , RGD:6767565
NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360
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Nedd9
neural precursor cell expressed, developmentally down-regulated 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr17:23,495,531...23,673,780
Ensembl chr17:23,282,326...23,468,019
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Nefh
neurofilament heavy chain
severity
ISO
RGD
PMID:16764346
RGD:27226808
NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
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Nefl
neurofilament light chain
disease_progression
ISO
protein:increased expresssion:serum (human) protein:increased expression:serum (human)
RGD
PMID:31383792 PMID:33317883
RGD:127284875 , RGD:127285024
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
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Ngfr
nerve growth factor receptor
ISO
protein:increased expression:reactive astrocytes, microglia/macrophages (human)
RGD
PMID:11829348
RGD:5508481
NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25458313
NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811
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Nono
non-POU domain containing, octamer-binding
ISO
mRNA:altered expression:peripheral blood mononuclear cell (human)
RGD
PMID:29100048
RGD:156420155
NCBI chr X:70,594,116...70,611,976
Ensembl chr X:66,554,098...66,571,952
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Notch4
notch receptor 4
ISO
DNA: snps: cds: rs422951
RGD
PMID:21654846
RGD:6480692
NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
PMID:27253448
NCBI chr 3:97,614,616...97,632,053
Ensembl chr 3:77,158,808...77,168,722
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P2rx7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17728465
NCBI chr12:39,550,531...39,594,984
Ensembl chr12:33,879,745...33,934,619
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Pdcd1
programmed cell death 1
ISO
ClinVar Annotator: match by term: PDCD1-related condition
ClinVar
PMID:25741868
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937
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Phactr2
phosphatase and actin regulator 2
ISO
DNA: snp: : rs1015340
RGD
PMID:20546594
RGD:6483093
NCBI chr 1:9,411,412...9,680,648
Ensembl chr 1:7,597,927...7,860,289
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Pla2g7
phospholipase A2 group VII
ISO
protein:increased expression:plasma
RGD
PMID:22246459
RGD:6482783
NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476
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Plec
plectin
ISO
ClinVar Annotator: match by term: Multiple sclerosis
ClinVar
PMID:25741868 PMID:26467025 PMID:27392081 PMID:28492532 PMID:29590070
NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:107,887,764...107,945,467
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Pnmt
phenylethanolamine-N-methyltransferase
ISO
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human)
RGD
PMID:11958827
RGD:1358561
NCBI chr10:83,881,211...83,882,849
Ensembl chr10:83,384,923...83,386,556
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Polg
DNA polymerase gamma, catalytic subunit
ISO
DNA:missense mutations:cds:
RGD
PMID:20837861
RGD:8694283
NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2843795 PMID:9664777
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
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Prf1
perforin 1
ISO ISS
OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human) protein:increased expression:blood, T cell
MouseDO RGD
PMID:19680139 PMID:20921521 PMID:22001684
RGD:6482805 , RGD:6482820 , RGD:6482817
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,246,202...29,251,701
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:white matter,astrocyte:
RGD
PMID:19716418
RGD:10412736
NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:48,690,556...49,882,555
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:20174631
RGD:6483446
NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:missense mutation: :R620W (rs2476601) (human)
RGD
PMID:15934099
RGD:6484550
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
DNA:snp:exon:c.77C>G (human)
RGD
PMID:11101853
RGD:1358566
NCBI chr13:52,147,717...52,259,810
Ensembl chr13:49,596,193...49,708,692
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Rbpj
recombination signal binding protein for immunoglobulin kappa J region
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25853421
NCBI chr14:61,551,366...61,736,220
Ensembl chr14:57,338,507...57,523,353
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Rgma
repulsive guidance molecule BMP co-receptor a
ISO
DNA:SNPs:intron: (rs997941, rs34925346) (human)
RGD
PMID:20072140
RGD:6892695
NCBI chr 1:136,538,782...136,582,763
Ensembl chr 1:127,128,934...127,172,918
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Rhoa
ras homolog family member A
ISO
protein:increased expression:microglial cell, brain
RGD
PMID:17983427
RGD:2298887
NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746
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Rnf19a
ring finger protein 19A, RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 7:69,310,947...69,350,567
Ensembl chr 7:67,425,837...67,465,222
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Rnf217
ring finger protein 217
ISO
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
ClinVar
NCBI chr 1:27,835,741...27,927,805
Ensembl chr 1:26,015,728...26,108,736
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:21741664
RGD:5147555
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:HLA-DQB1*06 (human)
OMIM CTD RGD
PMID:21741664 PMID:21908482 PMID:20463743
RGD:5147555 , RGD:7421588 , RGD:5147658
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Da
RT1 class II, locus Da
ISO
DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter (human)
CTD RGD
PMID:17660530 PMID:19834503 PMID:10527398
RGD:5490202 , RGD:5490204
NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,512,911...4,518,455
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RT1-Db1
RT1 class II, locus Db1
susceptibility onset
ISO
DNA:polymorphism: :HLA-DRB*1501 (human) ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple (human) DNA:polymorphism: :HLA-DRB1*0801 (human) DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*15 (human)
ClinVar OMIM CTD RGD
PMID:25741868 PMID:25911099 PMID:21741664 PMID:20207784 PMID:20580995 PMID:21440682 PMID:21664963 More...
RGD:5147555 , RGD:5147580 , RGD:5147573 , RGD:5147564 , RGD:5147559
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human)
CTD RGD
PMID:17956852 PMID:32560041
RGD:150429806
NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618
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Sele
selectin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr13:78,935,997...78,945,905
Ensembl chr13:76,403,304...76,412,741
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Sh2d2a
SH2 domain containing 2A
susceptibility
ISO
DNA:repeat:promoter:-341(GA)13-33 (human) DNA:polymorphism:promoter
RGD
PMID:18554728 PMID:11528519
RGD:2298871 , RGD:1358573
NCBI chr 2:175,610,127...175,616,685
Ensembl chr 2:173,312,253...173,318,810
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:18991353
RGD:12801440
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
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Slc11a1
solute carrier family 11 member 1
no_association
ISO
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human)
CTD RGD
PMID:16597321 PMID:18973068 PMID:15584484
RGD:5684937 , RGD:5684960
NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101
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Sox2
SRY-box transcription factor 2
ISO
RGD
PMID:26290228
RGD:597538585
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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Spp1
secreted phosphoprotein 1
ISO
DNA, protein:SNPs, haplotypes, increased expression:multiple, serum
RGD
PMID:11721059 PMID:15885319
RGD:1581329 , RGD:1581472
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
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Stat4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540
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Sys1
Sys1 golgi trafficking protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 3:173,610,332...173,637,624
Ensembl chr 3:153,191,090...153,220,651
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility no_association
ISO
DNA:synonymous mutation: : DNA:SNPs:CDs:p.V379I, A565T(human)
RGD
PMID:7759306 PMID:7797617 PMID:7928442
RGD:6482279 , RGD:6482281 , RGD:6482280
NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:cerebrospinal fluid, mononuclear cell
RGD
PMID:18644848
RGD:2312575
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
disease_progression no_association
ISO ISS
OMIM:612594 | OMIM:612595 | OMIM:612596 DNA:SNP:promoter:-308G>A (human)
MouseDO RGD
PMID:8964914 PMID:9270614 PMID:8887999
RGD:7401237 , RGD:12904657 , RGD:12904068
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282
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Tnfrsf1a
TNF receptor superfamily member 1A
susceptibility
ISO
DNA:SNP:intron: (rs1800693) (human) ClinVar Annotator: match by term: Multiple sclerosis | ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 | ClinVar Annotator: match by term: TNFRSF1A-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:9585614 PMID:10199409 PMID:11443543 PMID:13130484 PMID:15312137 PMID:16508982 PMID:18180277 PMID:18512793 PMID:19525953 PMID:19917181 PMID:20457915 PMID:22801493 PMID:23322460 PMID:23745996 PMID:23965844 PMID:24033266 PMID:24076602 PMID:24393624 PMID:25741868 PMID:25936627 PMID:26598380 PMID:28492532 PMID:32380704 PMID:32831641 PMID:35753512 PMID:22801493 More...
RGD:8661741
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
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Tnfsf14
TNF superfamily member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24076602
NCBI chr 9:2,155,270...2,160,100
Ensembl chr 9:2,069,104...2,073,216
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Tnfsf9
TNF superfamily member 9
ISO
protein:increased expression:plasma, monocyte (human)
RGD
PMID:16970683
RGD:2317352
NCBI chr 9:2,031,011...2,033,345
Ensembl chr 9:1,944,017...1,946,345
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Traf1
TNF receptor-associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 3:38,607,707...38,639,641
Ensembl chr 3:18,222,054...18,241,807
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19525955
NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:19,641,884...19,667,044
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20175758
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
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Vdr
vitamin D receptor
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :rs731236,rs7975232(human) DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human) DNA:silent mutation, haplotype:cds: (rs731236) (human)
CTD RGD
PMID:25853421 PMID:15118671 PMID:27049563 PMID:25685788 PMID:26540116 PMID:21664963 More...
RGD:1331525 , RGD:11530654 , RGD:13210790 , RGD:11353119 , RGD:5147559
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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Vhl
von Hippel-Lindau tumor suppressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30661753
NCBI chr14:84,604,623...84,609,707
Ensembl chr14:80,390,643...80,395,693
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Zfp267
zinc finger protein 267
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31068361
NCBI chr 2:120,945,434...120,964,039
Ensembl chr 2:119,017,285...119,031,900
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Ache
acetylcholinesterase
ISO
RGD
PMID:17986328
RGD:5509842
NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651
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Adrb2
adrenoceptor beta 2
ISO
DNA:polymorphisms:cds:p.R16G,Q27E(human)
RGD
PMID:10606977
RGD:8548470
NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512
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Cfb
complement factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6605118
NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
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Chrm1
cholinergic receptor, muscarinic 1
ISO
RGD
PMID:17764462
RGD:5133415
NCBI chr 1:214,996,180...215,012,136
Ensembl chr 1:205,567,220...205,582,356
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:15843529
RGD:1598501
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15843529
RGD:1598501
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:66,844,318...66,846,969
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
ISO
ClinVar Annotator: match by term: refractory myasthenia gravis
ClinVar
PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926
NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422
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Esr2
estrogen receptor 2
ISO
RGD
PMID:15661863
RGD:5509039
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:peripheral blood, T lymphocyte (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15169653 PMID:23043710
RGD:8662430
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Il2rb
interleukin 2 receptor subunit beta
ISO
DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human)
RGD
PMID:20728947
RGD:5684377
NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:110,033,341...110,048,054
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Musk
muscle associated receptor tyrosine kinase
treatment severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (human)
CTD RGD
PMID:22981737 PMID:27119269 PMID:22218276 PMID:26025053
RGD:38599166 , RGD:38599165
NCBI chr 5:77,853,560...77,967,653
Ensembl chr 5:73,058,121...73,171,932
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4323972
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA: snp: cds: 1858T
RGD
PMID:19693092
RGD:6484722
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*0101/2, HLA-DQA1*0501 (human) DNA:polymorphisms, haplotype:cds:HLA-DQA!*0501, HLA-DQA1*0301 (human)
RGD
PMID:19561379 PMID:10593018
RGD:5147612 , RGD:5147855
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human) DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human)
RGD
PMID:19561379 PMID:10593018
RGD:5147612 , RGD:5147855
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility onset
ISO
DNA:polymorphism: :HLA-DRB1∗09,HLA- DRB1∗08(human) DNA:polymorphism: :HLA-DRB1*0901, HLA-DRB1*1302(human)
RGD
PMID:21924912 PMID:15003812
RGD:7365051 , RGD:7365079
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17956852
NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618
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Zscan25
zinc finger and SCAN domain containing 25
ISO
ClinVar Annotator: match by term: refractory myasthenia gravis
ClinVar
PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926
NCBI chr12:14,441,458...14,451,919
Ensembl chr12:9,326,404...9,338,221
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Aqp4
aquaporin 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human)
CTD RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:26287559 PMID:22271321 PMID:18420727 PMID:23116879 PMID:23890015 PMID:23995423 PMID:20047900 More...
RGD:5148024 , RGD:597830176 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
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Cd59em1Ask
CD59 molecule; CRISPR/Cas9 induced mutant1, Ask
severity
IMP
RGD
PMID:28212662
RGD:13792592
G
Cd59b
CD59b molecule
severity
IMP
RGD
PMID:28212662
RGD:13792592
NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr10:88,352,987...88,361,661
Ensembl chr10:87,852,890...87,861,589
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Il21
interleukin 21
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996
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Il6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Mbp
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Nefh
neurofilament heavy chain
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
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Nefl
neurofilament light chain
ISO
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0402 (human) DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD
PMID:21908482 PMID:27049564
RGD:7421588 , RGD:11530523
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD
PMID:21748712 PMID:27049564
RGD:5147590 , RGD:11530523
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21371524
RGD:5508767
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743
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Aqp4
aquaporin 4
ISO
RGD
PMID:17468440
RGD:8698645
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
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Adamts14
ADAM metallopeptidase with thrombospondin type 1 motif, 14
ISO
DNA:SNPs:intron: A>G, C>G (human)
RGD
PMID:15913795
RGD:6771190
NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,144,354...29,219,866
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Bche
butyrylcholinesterase
ISO
RGD
PMID:20122907
RGD:5687690
NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148
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Cd274
CD274 molecule
severity
ISO
RGD
PMID:21494618
RGD:6893669
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450
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Gc
GC, vitamin D binding protein
ISO
protein:increased expression:cerebrospinal fluid:
RGD
PMID:20093204
RGD:5509869
NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567
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Grn
granulin precursor
susceptibility
ISO
protein:increased expression:cerebrospinal fluids DNA:SNPs: :rs2879096, rs4792938(human)
RGD
PMID:21613335 PMID:20463744
RGD:5509591 , RGD:5509596
NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Chronic progressive multiple sclerosis
ClinVar
NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609
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Igfbp3
insulin-like growth factor binding protein 3
disease_progression
ISO
RGD
PMID:15732261
RGD:1626118
NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083
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Il4r
interleukin 4 receptor
ISO
DNA:missense mutation:cds:p.Q551R (human)
RGD
PMID:11164908
RGD:1358313
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:14504963
RGD:13204808
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Primary progressive multiple sclerosis
ClinVar
PMID:2504279 PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28480171 PMID:28492532 PMID:32504279 More...
NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567
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RT1-Bb
RT1 class II, locus Bb
severity
ISO
DNA:polymorphism: :HLA-DQB1*0602 (human)
RGD
PMID:19616314
RGD:5147610
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
severity
ISO
DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human)
RGD
PMID:19616314
RGD:5147610
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:12926841
RGD:12801414
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
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Ackr3
atypical chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624384
NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:90,799,686...90,811,237
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Adamts14
ADAM metallopeptidase with thrombospondin type 1 motif, 14
ISO
DNA:SNP:intron: C>T (human)
RGD
PMID:15913795
RGD:6771190
NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,144,354...29,219,866
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Apoa4
apolipoprotein A4
onset
ISO
protein:decreased expression:cerebrospinal fluid (human)
RGD
PMID:19383442
RGD:5685649
NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15096402 PMID:34624384
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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Cd36
CD36 molecule
ISO
RGD
PMID:20855355
RGD:6893496
NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903
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Cd80
Cd80 molecule
ISO
protein:increased expression:blood, B cell
RGD
PMID:21310664
RGD:6893670
NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030
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Cspg4
chondroitin sulfate proteoglycan 4
ISO
RGD
PMID:10976643
RGD:5686865
NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:57,264,962...57,300,010
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Ctss
cathepsin S
ISO
mRNA, protein:increased expression:blood, leukocyte
RGD
PMID:21143385
RGD:5687146
NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483
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Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphism:intron:735T>C(human)
RGD
PMID:15218339
RGD:12903953
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Grn
granulin precursor
disease_progression
ISO
protein:increased expression:cerebrospinal fluids
RGD
PMID:21613335
RGD:5509591
NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:15153541
RGD:5128853
NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis
ClinVar
NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression
RGD
PMID:21824468
RGD:5688780
NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259
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Klc1
kinesin light chain 1
susceptibility
ISO
DNA:SNP:intron:56836G>C (rs8702) (human)
RGD
PMID:17999208
RGD:5684008
NCBI chr 6:136,644,592...136,690,399
Ensembl chr 6:130,823,419...130,867,031
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Mmp19
matrix metallopeptidase 19
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:11438176
RGD:1642025
NCBI chr 7:1,805,732...1,814,054
Ensembl chr 7:1,221,343...1,229,555
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:16412833
RGD:13204825
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Nefh
neurofilament heavy chain
treatment
ISO
RGD
PMID:15222692
RGD:27226879
NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
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Nefl
neurofilament light chain
ISO
associated with relapse;protein:increased expression:serum (human) protein:increased expression:CSF (human)
RGD
PMID:30761586 PMID:33658322
RGD:127285025 , RGD:127285027
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
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Nod2
nucleotide-binding oligomerization domain containing 2
disease_progression
ISO
DNA:SNPs: :rs3135499,rs2066842(human)
RGD
PMID:20595247
RGD:13204725
NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177
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Nog
noggin
ISO
mRNA,protein:decreased expression:mononuclear cell"
RGD
PMID:21111488
RGD:12801480
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:brain, cerebrospinal fluid
RGD
PMID:12076997
RGD:5508822
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743
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Serpine1
serpin family E member 1
disease_progression
ISO
protein:increased expression:plasma:
RGD
PMID:10739162
RGD:13208510
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Timp1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:16412833
RGD:13204825
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Chronic progressive multiple sclerosis
ClinVar
NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609
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Atox1
antioxidant 1 copper chaperone
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:40,065,525...40,080,627
Ensembl chr10:39,564,857...39,579,950
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Stiff-man syndrome, congenital
ClinVar
PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Fat2
FAT atypical cadherin 2
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,364,073...39,456,216
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G3bp1
G3BP stress granule assembly factor 1
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:40,087,533...40,120,931
Ensembl chr10:39,586,864...39,620,268
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Glra1
glycine receptor, alpha 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary hyperekplexia | ClinVar Annotator: match by term: Stiff-person syndrome, congenital
CTD ClinVar
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 PMID:7981700 PMID:8298642 PMID:8651283 PMID:8733061 PMID:9009272 PMID:9536098 PMID:9927632 PMID:10514101 PMID:10817489 PMID:11389164 PMID:11702206 PMID:11781706 PMID:12169101 PMID:12746425 PMID:14673895 PMID:15365143 PMID:15771552 PMID:16078201 PMID:16199547 PMID:16236274 PMID:16941485 PMID:17534957 PMID:17536053 PMID:17576681 PMID:18175347 PMID:19073849 PMID:19732286 PMID:20631190 PMID:22532536 PMID:24033266 PMID:24108130 PMID:25036534 PMID:25333069 PMID:25356525 PMID:25568133 PMID:25741868 PMID:26733802 PMID:28122427 PMID:28138086 PMID:28174298 PMID:28348128 PMID:28492532 PMID:28617419 PMID:28985719 PMID:30078784 PMID:30109271 PMID:30182260 PMID:30866851 PMID:32319239 PMID:32332682 PMID:32695065 PMID:36434917 More...
NCBI chr10:40,128,284...40,228,612
Ensembl chr10:39,629,459...39,727,162
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Glrb
glycine receptor, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:166,134,626...166,207,489
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Gm2a
ganglioside GM2 activator
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:39,719,919...39,732,452
Ensembl chr10:39,219,243...39,231,757
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Gphn
gephyrin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Stiff-person syndrome, congenital
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:96,892,148...97,483,612
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISO
RGD
PMID:12225901
RGD:10411898
NCBI chr18:45,515,427...45,604,467
Ensembl chr18:43,328,824...43,417,952
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Lama2
laminin subunit alpha 2
ISO
ClinVar Annotator: match by term: Stiff-person syndrome, congenital
ClinVar
PMID:24225367 PMID:25741868 PMID:28492532
NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530
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Slc36a1
solute carrier family 36 member 1
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:39,819,753...39,858,068
Ensembl chr10:39,324,337...39,354,217
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Slc36a2
solute carrier family 36 member 2
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:39,778,667...39,806,781
Ensembl chr10:39,278,046...39,306,082
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Slc36a3
solute carrier family 36, member 3
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:39,744,226...39,774,120
Ensembl chr10:39,243,595...39,270,567
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Slc6a5
solute carrier family 6 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25480793
NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:99,645,389...99,697,010
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Sparc
secreted protein acidic and cysteine rich
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396
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Trak1
trafficking kinesin protein 1
ISS
OMIM:184850
MouseDO
NCBI chr 8:129,861,967...130,016,870
Ensembl chr 8:120,984,431...121,139,367
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*0404(human) DNA:polymorphism: :HLA-DRB1*04(human)
RGD
PMID:11222331 PMID:9062965
RGD:7365091 , RGD:7365100
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:15742444
RGD:1581162
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10616010
RGD:5024918
NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787
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Crh
corticotropin releasing hormone
no_association
ISO
DNA:polymorphism:promoter
RGD
PMID:12051390
RGD:1581301
NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919
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Crp
C-reactive protein
ISO
protein:increased expression:blood:
RGD
PMID:15206651
RGD:9491785
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
ISO
RGD
PMID:9844760
RGD:11059502
NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199
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Dll1
delta like canonical Notch ligand 1
ISO
mRNA:increased expression:temporal artery
RGD
PMID:21220737
RGD:6482238
NCBI chr 1:64,985,161...64,993,274
Ensembl chr 1:56,312,066...56,320,179
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Eln
elastin
ISO
RGD
PMID:9101501
RGD:9585754
NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928
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Fcgr2a
Fc gamma receptor 2A
ISO
DNA:polymorphism: :p.H131R (human)
RGD
PMID:16846526
RGD:5147974
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
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Fcgr3a
Fc gamma receptor 3A
ISO
DNA:polymorphism (human)
RGD
PMID:16846526
RGD:5147974
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
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Ifng
interferon gamma
severity
ISO
DNA:repeats:intron:
RGD
PMID:15675129
RGD:8157621
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Il17a
interleukin 17A
severity susceptibility
ISO
mRNA, protein:increased expression:temporal artery (human) DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
RGD
PMID:22993227 PMID:24919468
RGD:8698666 , RGD:9068454
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
no_association
ISO
DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human) DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD
PMID:20331879 PMID:20331879
RGD:8655865 , RGD:8655865
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:22147555
RGD:6892962
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522
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Il4
interleukin 4
ISO
DNA:SNP, haplotype: :rs2227284 (human)
RGD
PMID:15570643
RGD:7829811
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
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Jag1
jagged canonical Notch ligand 1
ISO
mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear
RGD
PMID:21220737
RGD:6482238
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
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Mbl2
mannose binding lectin 2
ISO
DNA:polymorphism:cds:
RGD
PMID:12375325
RGD:8693752
NCBI chr 1:237,429,873...237,465,567
G
Mfge8
milk fat globule EGF and factor V/VIII domain containing
ISO
RGD
PMID:11748647
RGD:1582497
NCBI chr 1:142,474,027...142,489,431
Ensembl chr 1:133,064,665...133,080,073
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:temporal artery
RGD
PMID:17502363
RGD:8657040
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
no_association
ISO
protein:increased expression:temporal artery (human) protein:increased activity:temporal artery DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human) DNA:SNP:CDS:rs2250889 (human) protein:increased expression:serum
RGD
PMID:15998676 PMID:17502363 PMID:18512818 PMID:18512818 PMID:8843867
RGD:1580575 , RGD:8657040 , RGD:8547902 , RGD:8547902 , RGD:8547826
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:polymorphism: :p.R620W (rs2476601) (human) DNA:polymorphism: :1858C>T (human)
RGD
PMID:23946333 PMID:16078327
RGD:7829739 , RGD:7829744
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
G
RT1-Db1
RT1 class II, locus Db1
onset
ISO
associated with Polymyalgia Rheumatica;DNA:polymorphisms (human) DNA:polymorphism (human)
RGD
PMID:20064872 PMID:16846526
RGD:5147583 , RGD:5147974
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
G
Tlr4
toll-like receptor 4
susceptibility no_association
ISO
DNA:polymorphism: :896A>G(rs4986790)(human) DNA:polymorphism: :896A>G,1196C>T(human)
RGD
PMID:19531762 PMID:21586524
RGD:7777158 , RGD:7777159
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
G
Aqp4
aquaporin 4
ISO
RGD
PMID:21771203 PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
G
Il6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
G
Vps37a
VPS37A subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:25741868 PMID:28492532 PMID:29473047
NCBI chr16:58,434,802...58,478,777
Ensembl chr16:51,737,481...51,775,390
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Ifng
interferon gamma
ISO
associated with uveitis;protein:increased expression:aqueous humor:
RGD
PMID:21334264
RGD:8142356
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
G
Itgb2
integrin subunit beta 2
ISO
protein:decreased expression:T cell
RGD
PMID:21297967
RGD:6482200
NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: : HLA-DQA1*0301
RGD
PMID:11835809
RGD:8547565
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:multiple (human) DNA:snps:promoter:g.-227G>A, g.-189C>A (human)
RGD
PMID:17605936 PMID:19176112
RGD:7421525 , RGD:7421581
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism: :HLA-DRB1*0405(human) DNA:polymorphisms: :HLA-DRB1*0405, HLA-DRB1*0410(human) DNA:polymorphisms (human)
RGD
PMID:15603876 PMID:9548078 PMID:20216938 PMID:10527396
RGD:5147653 , RGD:7365099 , RGD:7365067 , RGD:5147857
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
G
Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs7574865 (human)
RGD
PMID:20438790
RGD:8661713
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540
G
Tnf
tumor necrosis factor
ISO
associated with uveitis;protein:increased expression:aqueous humor:
RGD
PMID:21334264
RGD:8142356
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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