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: Central Nervous System Infections
Accession: DOID:9000025
browse the term
Definition: Pathogenic infections of the brain, spinal cord, and meninges. DNA VIRUS INFECTIONS; RNA VIRUS INFECTIONS; BACTERIAL INFECTIONS; MYCOPLASMA INFECTIONS; SPIROCHAETALES INFECTIONS; fungal infections; PROTOZOAN INFECTIONS; HELMINTHIASIS; and PRION DISEASES may involve the central nervous system as a primary or secondary process.
Synonyms: exact_synonym: Central Nervous System Infection
primary_id: MESH:D002494 ; RDO:0005050
For additional species annotation, visit the
Alliance of Genome Resources .
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Sod2
superoxide dismutase 2
ISO
RGD
PMID:15337840
RGD:1581246
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
mRNA:increased expression:brain:
RGD
PMID:24657070 , PMID:23148283
RGD:11561855 , RGD:40400713
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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Il33
interleukin 33
ISO
protein:increased expression:brain:
RGD
PMID:23148283 , PMID:24076431
RGD:40400713 , RGD:40400715
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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Il5
interleukin 5
ISO
RGD
PMID:8361777
RGD:11354948
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Mag
myelin-associated glycoprotein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
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Mbp
myelin basic protein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
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Mobp
myelin-associated oligodendrocyte basic protein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:5108595 PMID:5109917 PMID:5536438
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10888991
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Ache
acetylcholinesterase
ISO
RGD
PMID:21303225
RGD:5688130
NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
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Bche
butyrylcholinesterase
ISO
protein:increased expression:blood
RGD
PMID:21303225
RGD:5688130
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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Bdnf
brain-derived neurotrophic factor
ISO IEP
mRNA, protein:increased expression:hippocampus mRNA:decreased expression:hippocampus,cerebral cortex:
RGD
PMID:16141791 , PMID:22683802
RGD:5684920 , RGD:8655554
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Cd46
CD46 molecule
ISO
RGD
PMID:16948860
RGD:6483465
NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:cerebrospinal fluid (human)
RGD
PMID:11986266
RGD:4892662
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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Crp
C-reactive protein
ISO
protein:increased expression:serum:
RGD
PMID:6122844
RGD:9491388
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:10430840
RGD:8547971
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Ngf
nerve growth factor
IEP
mRNA:decreased expression:hippocampus:
RGD
PMID:22683802
RGD:8655554
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA, protein:increased expression:hippocampus
RGD
PMID:16141791
RGD:5684920
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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Parp1
poly (ADP-ribose) polymerase 1
susceptibility
ISO
DNA:snp:cds:p.V762A rs1136410 (human)
RGD
PMID:21651918
RGD:5683901
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:15105355
RGD:5508818
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Aldoc
aldolase, fructose-bisphosphate C
IEP
mRNA, protein:decreased expression:cerebellum, Purkinje cell
RGD
PMID:17182680
RGD:2301132
NCBI chr10:65,586,504...65,590,093
Ensembl chr10:65,586,504...65,590,126
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Atf4
activating transcription factor 4
IEP
protein:increased expression:cerebellum
RGD
PMID:16912310
RGD:32733622
NCBI chr 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772
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Atf6
activating transcription factor 6
IEP
protein:increased expression:cerebellum, hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
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Cd44
CD44 molecule (Indian blood group)
IEP
RGD
PMID:16612977
RGD:2289373
NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:12053272
RGD:4891998
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
mRNA:increased expression:brain
RGD
PMID:12053272
RGD:4891998
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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Ddit3
DNA-damage inducible transcript 3
IEP
mRNA,protein:increased expression:cerebellum, hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
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Eif2a
eukaryotic translation initiation factor 2A
IEP
protein:increased expression:cerebellum,hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr 2:148,722,343...148,755,781
Ensembl chr 2:148,722,231...148,755,520
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Gja1
gap junction protein, alpha 1
IEP
RGD
PMID:18538309
RGD:7364785
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Gjb6
gap junction protein, beta 6
IEP
RGD
PMID:18538309
RGD:7364785
NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
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Il16
interleukin 16
IEP
protein:increased expression:brain
RGD
PMID:14698845
RGD:1354526
NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
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Mif
macrophage migration inhibitory factor
IEP
protein:increased expression:astrocyte
RGD
PMID:11870869
RGD:1642006
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Mt3
metallothionein 3
IEP
RGD
PMID:16612977
RGD:2289373
NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
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Parg
poly (ADP-ribose) glycohydrolase
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:18057239
RGD:2316738
NCBI chr16:8,350,168...8,457,999
Ensembl chr16:8,350,326...8,457,996
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Parp1
poly (ADP-ribose) polymerase 1
IEP
mRNA,protein:increased expression,increased activity:neuron, glial cell:
RGD
PMID:18057239
RGD:2316738
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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S100b
S100 calcium binding protein B
IEP
protein:decreased expression:cerebellum, cerebral cortex
RGD
PMID:17376896
RGD:5508841
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Slc6a4
solute carrier family 6 member 4
IEP
protein:increased expression:brain (rat)
RGD
PMID:12106671
RGD:38549588
NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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Xbp1
X-box binding protein 1
IEP
mRNA,protein:altered expression:cerebellum,hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:16239543
RGD:8552881
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:19660546
RGD:2325963
NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:19660546
RGD:2325963
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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Plat
plasminogen activator, tissue type
IEP
protein:increased expression:cerebellum (rat)
RGD
PMID:19279110
RGD:11537478
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Ace2
angiotensin I converting enzyme 2
susceptibility
ISO
DNA:SNP:intron 1: C>T
RGD
PMID:20117248
RGD:40818420
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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Aqp4
aquaporin 4
disease_progression
ISO
protein:increased expression:astrocyte:
RGD
PMID:21904632
RGD:8698661
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Cast
calpastatin
ISO
protein:increased express:brain
RGD
PMID:16236382
RGD:5509817
NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
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Cd36
CD36 molecule
ISO
RGD
PMID:17367535
RGD:6893527
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:25682948
RGD:40400741
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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Il33
interleukin 33
treatment
ISO
protein:increased expression:brain
RGD
PMID:25659095 , PMID:25682948
RGD:39938955 , RGD:40400741
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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Jak3
Janus kinase 3
ISO
RGD
PMID:22363534
RGD:11531103
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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Lta
lymphotoxin alpha
ISO
RGD
PMID:12021316
RGD:10449455
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Nrg1
neuregulin 1
treatment
ISO
mRNA, protein:increased expression:cerebral cortex (mouse) human protein in a mouse model
RGD
PMID:29636063 , PMID:24433482
RGD:39456084 , RGD:39456102
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:25775137
RGD:38599200
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
ISO
mRNA:decreased expression:brain (mouse)
RGD
PMID:29107705
RGD:39456137
NCBI chr 5:124,568,845...124,642,569
Ensembl chr 5:124,574,079...124,642,569
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:12228317
RGD:5131158
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20156658
RGD:40902838
NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
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Aldh1a1
aldehyde dehydrogenase 1 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 1:238,222,689...238,264,381
Ensembl chr 1:238,222,521...238,264,330
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Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
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Cped1
cadherin-like and PC-esterase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 4:49,055,988...49,333,729
Ensembl chr 4:49,056,010...49,333,304
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Ctss
cathepsin S
ISO
RGD
PMID:12368333
RGD:5686913
NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
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Galc
galactosylceramidase
ISO
mRNA:decreased expression:frontal cortex (human)
RGD
PMID:30009661
RGD:38599170
NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
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Hist2h4a
histone cluster 2 H4 family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 4:170,800,539...170,800,979
Ensembl chr17:43,770,250...43,770,561 Ensembl chr17:43,770,250...43,770,561 Ensembl chr17:43,770,250...43,770,561 Ensembl chr17:43,770,250...43,770,561 Ensembl chr 2:43,770,250...43,770,561 Ensembl chr17:43,770,250...43,770,561 Ensembl chr17:43,770,250...43,770,561 Ensembl chr17:43,770,250...43,770,561 Ensembl chr 4:43,770,250...43,770,561 Ensembl chr 4:43,770,250...43,770,561 Ensembl chr 4:43,770,250...43,770,561 Ensembl chr 4:43,770,250...43,770,561
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Il1a
interleukin 1 alpha
ISO
mRNA:increased expression:brain:
RGD
PMID:8790403
RGD:10045948
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Klrc2
killer cell lectin like receptor C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 4:163,433,993...163,445,136
Ensembl chr 4:163,416,351...163,445,302
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Krt73
keratin 73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 7:143,399,878...143,408,316
Ensembl chr 7:143,399,808...143,408,277
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LOC299277
similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B
ISO
mRNA,protein:increased expression:frontal cortex:
RGD
PMID:29142239
RGD:36947868
NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
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Msl3l2
male-specific lethal 3-like 2 (Drosophila)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr20:37,580,002...37,590,015
Ensembl chr20:37,587,687...37,589,198
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Prnp
prion protein
ISO
DNA:mutation ClinVar Annotator: match by term: Jakob-Creutzfeldt disease ClinVar Annotator: match by term: Protection against Creutzfeldt-Jakob disease CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1469441 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2253724 PMID:2378641 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8909447 PMID:9279329 PMID:9482303 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10665501 PMID:10889050 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:12451207 PMID:12572668 PMID:12601712 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15753435 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17494694 PMID:18955686 PMID:19703264 PMID:19923577 PMID:20139714 PMID:20514992 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:21269331 PMID:21298055 PMID:21839748 PMID:21909425 PMID:22072968 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23349890 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:26268049 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27803826 PMID:28492532 PMID:29382530 , PMID:1684755
RGD:1599946
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
mRNA, protein:increased expression:macrophage, endothelial cell
RGD
PMID:12663931
RGD:5688237
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:neuron
RGD
PMID:12663931
RGD:5688237
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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RT1-Bb
RT1 class II, locus Bb
ISO
OMIM
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:20855493
RGD:5508781
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Serpina3m
serpin family A member 3M
disease_progression
ISO
mRNA,protein:increased expression:frontal cortex:
RGD
PMID:29142239 , PMID:29142239
RGD:36947868 , RGD:36947868
NCBI chr 6:127,808,785...127,816,067
Ensembl chr 6:127,808,785...127,816,055
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Snca
synuclein alpha
ISO
protein:increased expression:cerebral spinal fluid:
RGD
PMID:18625222
RGD:13506723
NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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Srd5a3
steroid 5 alpha-reductase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
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Stx1a
syntaxin 1A
ISO
RGD
PMID:10842016
RGD:1581434
NCBI chr12:24,682,050...24,710,002
Ensembl chr12:24,682,041...24,710,019
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Tubb2a
tubulin, beta 2A class IIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651
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Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
ISO
RGD
PMID:19151623
RGD:10395347
NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
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Gucy1b1
guanylate cyclase 1 soluble subunit beta 1
ISO
RGD
PMID:15571982
RGD:10401946
NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
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Cd274
CD274 molecule
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with HIV Infections;DNA:polymorphism:cds:
RGD
PMID:21592999
RGD:12910861
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:29058791 , PMID:29058791
RGD:41412178 , RGD:41412178
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
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Prnp
prion protein
ISO
ClinVar Annotator: match by term: Fatal familial insomnia
OMIM ClinVar
PMID:1351274 PMID:1404799 PMID:1469441 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1975028 PMID:2253724 PMID:2572450 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8618678 PMID:9279329 PMID:9813003 PMID:10090891 PMID:10360778 PMID:10665501 PMID:10889050 PMID:11756597 PMID:11839833 PMID:14967768 PMID:15366237 PMID:17494694 PMID:20139714 PMID:20514992 PMID:20593190 PMID:21298055 PMID:22072968 PMID:22318125 PMID:22584955 PMID:23132868 PMID:23296137 PMID:23723004 PMID:25064618 PMID:25279981 PMID:25522698 PMID:26791950 PMID:27803826 PMID:28492532
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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Prnp
prion protein
ISO
ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1357663 PMID:1363809 PMID:1363810 PMID:1672296 PMID:1674033 PMID:2180366 PMID:2190844 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7501157 PMID:7902971 PMID:7902972 PMID:7954833 PMID:8570627 PMID:8698234 PMID:8939199 PMID:9452375 PMID:9653185 PMID:10079068 PMID:10203975 PMID:10506086 PMID:10581485 PMID:10698707 PMID:10953183 PMID:11704923 PMID:11709001 PMID:11967261 PMID:12372829 PMID:15824374 PMID:16939293 PMID:17353478 PMID:18955686 PMID:19225789 PMID:19675240 PMID:19696976 PMID:19911184 PMID:20541558 PMID:21416485 PMID:22097954 PMID:22965875 PMID:25741868 PMID:25959220 PMID:28492532
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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Fcgr2a
Fc fragment of IgG receptor IIa
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:8648541
RGD:11040885
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Aqp4
aquaporin 4
ISO
RGD
PMID:17454447
RGD:8698664
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Calca
calcitonin-related polypeptide alpha
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
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Calcr
calcitonin receptor
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 4:28,627,439...28,702,559
Ensembl chr 4:28,627,442...28,702,559
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22377584
RGD:8661752
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:23391218
RGD:8551839
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:26872602
RGD:39939003
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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Irf3
interferon regulatory factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:100,992,244...100,997,202
Ensembl chr 1:100,992,405...100,997,198
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Lta
lymphotoxin alpha
ISO
RGD
PMID:11145686
RGD:8548806
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
treatment
ISO
protein:increased activity:brain
RGD
PMID:20483026 , PMID:15364410
RGD:8547867 , RGD:8547868
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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Ticam1
toll-like receptor adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:10,780,185...10,790,280
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Tlr2
toll-like receptor 2
disease_progression
ISO IEP
RGD
PMID:14739339 , PMID:20806060
RGD:8553026 , RGD:5130178
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr3
toll-like receptor 3
susceptibility
ISO
ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:26513235 PMID:28046022 PMID:28492532 PMID:29305044
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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Tlr4
toll-like receptor 4
IEP
RGD
PMID:20806060
RGD:5130178
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tlr9
toll-like receptor 9
resistance
IEP
mRNA:increased expression:cheek (rat)
RGD
PMID:20806060
RGD:5130178
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Traf3
Tnf receptor-associated factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:219,172,987...219,183,941
Ensembl chr 1:219,144,205...219,183,963
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Tlr3
toll-like receptor 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:17434873 PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:24033266 PMID:25339207 PMID:26193622 PMID:26513235 PMID:28046022 PMID:28492532 PMID:29305044
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1
ClinVar OMIM
PMID:16973841 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:219,172,987...219,183,941
Ensembl chr 1:219,144,205...219,183,963
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Amn
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
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Traf3
Tnf receptor-associated factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar OMIM
PMID:28492532
NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564
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Ticam1
toll-like receptor adaptor molecule 1
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
ClinVar OMIM
PMID:22105173 PMID:25741868 PMID:26513235 PMID:28492532
NCBI chr 9:10,780,185...10,790,280
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Irf3
interferon regulatory factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 7
OMIM ClinVar
PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr 1:100,992,244...100,997,202
Ensembl chr 1:100,992,405...100,997,198
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App
amyloid beta precursor protein
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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Bace1
beta-secretase 1
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
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Cd68
Cd68 molecule
ISO
protein:increased expression:brain (human)
RGD
PMID:15488024
RGD:40925943
NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
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Cdk5
cyclin-dependent kinase 5
IDA
protein:increased tyrosine phosphorylation:hippocampus
RGD
PMID:28107387
RGD:13506927
NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
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Mfn1
mitofusin 1
ISO
associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human)
RGD
PMID:26611103
RGD:12910851
NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
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Olig2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:15579294
RGD:40902823
NCBI chr11:31,389,514...31,392,890
Ensembl chr11:31,389,514...31,392,890
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Prnp
prion protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
OMIM ClinVar
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2180366 PMID:2190844 PMID:2253724 PMID:2378641 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7954833 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8939199 PMID:9270595 PMID:9279329 PMID:9482303 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10588836 PMID:10612329 PMID:10665501 PMID:10889050 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12372829 PMID:12420099 PMID:12451207 PMID:12601712 PMID:12690204 PMID:12813570 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15987701 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16565881 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:18955686 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:21269331 PMID:21298055 PMID:21839748 PMID:21909425 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25959220 PMID:26268049 PMID:26488179 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27803826 PMID:28492532 PMID:29382530
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
ISO
RGD
PMID:17010311
RGD:18337278
NCBI chr 5:156,876,706...156,878,486
Ensembl chr 5:156,876,706...156,878,486
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Prnp
prion protein
susceptibility
ISO
ClinVar Annotator: match by term: Kuru, protection against CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16391566 PMID:26061765
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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Fcgr3a
Fc fragment of IgG receptor IIIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Ina
internexin neuronal intermediate filament protein, alpha
severity
ISO
RGD
PMID:20559547
RGD:40886275
NCBI chr 1:266,782,835...266,794,389
Ensembl chr 1:266,781,617...266,794,431
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
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Selp
selectin P
ISO
RGD
PMID:20179168
RGD:6478687
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum (human)
RGD
PMID:16358960
RGD:11528571
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Il1b
interleukin 1 beta
IDA
RGD
PMID:23134838
RGD:7193053
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Cd274
CD274 molecule
ISO
RGD
PMID:23230000
RGD:41410802
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:25829541
RGD:40400708
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:19478140
RGD:6892934
NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
RGD
PMID:30995287
RGD:40818298
NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20565293
RGD:40902858
NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
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Nfkb2
nuclear factor kappa B subunit 2
disease_progression
ISO
RGD
PMID:20565293
RGD:40902858
NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:30726291 , PMID:23230000
RGD:40818232 , RGD:41410802
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
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Was
WASP actin nucleation promoting factor
ISO
RGD
PMID:23141740
RGD:38676258
NCBI chr X:15,155,246...15,164,099
Ensembl chr X:15,155,230...15,164,105
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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Tnf
tumor necrosis factor
ISO
RGD
PMID:10318940
RGD:10449456
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tlr7
toll-like receptor 7
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr X:28,486,836...28,513,004
Ensembl chr X:28,486,869...28,512,957
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C9
complement C9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9570574
NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826
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Cd46
CD46 molecule
ISO
RGD
PMID:12869763
RGD:6483466
NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
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Cfp
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8530058 PMID:10909851
NCBI chr X:1,311,121...1,316,683
Ensembl chr X:1,311,121...1,316,682
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Mmp13
matrix metallopeptidase 13
IEP
RGD
PMID:10430840
RGD:8547971
NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
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Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:10430840
RGD:8547971
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
DNA:SNP,haplotype: :SNP8(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Tlr2
toll-like receptor 2
susceptibility
ISO
DNA:haplotype: :2477G>A(rs5743708)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:SNP,haplotype: :896A>G(rs4986790)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Aif1
allograft inflammatory factor 1
IEP
protein:increased expression:brain (rat)
RGD
PMID:16150122
RGD:2313041
NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
mRNA, protein:increased expression:brain, cerebrospinal fluid
RGD
PMID:19592007
RGD:6483338
NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1430592
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Trem2
triggering receptor expressed on myeloid cells 2
ISO
ClinVar Annotator: match by OMIM:221770 ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
ClinVar
PMID:12080485 PMID:12754369 PMID:12925681 PMID:15883308 PMID:18546367 PMID:21834902 PMID:23399524 PMID:25615530 PMID:25741868 PMID:27995897 PMID:28492532 PMID:28768830 PMID:29142083
NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
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Tyrobp
transmembrane immune signaling adaptor Tyrobp
ISO
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:221770 ClinVar Annotator: match by null
OMIM ClinVar CTD
PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 PMID:17430113 PMID:20500450 PMID:22082900 PMID:27658901 PMID:28492532 PMID:28620717
NCBI chr 1:88,875,370...88,879,305
Ensembl chr 1:88,875,375...88,879,303
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Aqp4
aquaporin 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human)
CTD
PMID:18509235 PMID:24070676 , PMID:16087714 , PMID:22271321 , PMID:18420727 , PMID:23116879 , PMID:23890015 , PMID:23995423 , PMID:20047900
RGD:5148024 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Cd59
CD59 molecule
severity
IMP
RGD
PMID:28212662
RGD:13792592
NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
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Cd59em1Ask
CD59 molecule; CRISPR/Cas9 induced mutant1, Ask
severity
IMP
RGD
PMID:28212662
RGD:13792592
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
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Il6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Mbp
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Nefh
neurofilament heavy
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
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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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21371524
RGD:5508767
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Adam17
ADAM metallopeptidase domain 17
treatment
IMP
RGD
PMID:24491581
RGD:13703038
NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
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Aqp4
aquaporin 4
treatment
ISO
protein:increased expression:brain:
RGD
PMID:15695511 , PMID:15695511
RGD:8698660 , RGD:8698660
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Camp
cathelicidin antimicrobial peptide
IEP
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chr 8:117,930,557...117,932,371
Ensembl chr 8:117,930,546...117,932,518
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
RGD
PMID:21109308
RGD:5134982
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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Cysltr1
cysteinyl leukotriene receptor 1
disease_progression
IEP
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr X:77,671,028...77,700,491
Ensembl chr X:77,674,150...77,700,269
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Cysltr2
cysteinyl leukotriene receptor 2
IEP
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:24844751
RGD:39939118
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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Il6
interleukin 6
treatment
IEP IDA IMP
protein:increased expression:brain
RGD
PMID:25443778 , PMID:8943431 , PMID:11581077
RGD:9831197 , RGD:11062107 , RGD:11060264
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Lgals3
galectin 3
IEP
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
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Lgals9
galectin 9
IEP
RGD
PMID:17706429
RGD:9685206
NCBI chr10:64,737,022...64,760,195
Ensembl chr10:64,737,022...64,760,201
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Mmp2
matrix metallopeptidase 2
treatment
IMP
RGD
PMID:24419461
RGD:8657111
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
treatment
IEP IMP
protein:increased expression:cerebrospinal fluid
RGD
PMID:17371820 , PMID:24419461
RGD:1642043 , RGD:8657111
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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Ntrk2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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Rela
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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Serping1
serpin family G member 1
treatment
ISO
RGD
PMID:17538891
RGD:8661645
NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tlr9
toll-like receptor 9
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Tnf
tumor necrosis factor
disease_progression
IEP
protein:increased expression:brain mRNA:increased expression:brain (rat)
RGD
PMID:25443778 , PMID:31933824
RGD:9831197 , RGD:40903068
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Pvr
PVR cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3020560 PMID:28446605
NCBI chr 1:80,820,306...80,835,712
Ensembl chr 1:80,820,050...80,835,701
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Bax
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:15618403
RGD:13782157
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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Bcl3
BCL3, transcription coactivator
severity
ISO
RGD
PMID:17573907
RGD:40902830
NCBI chr 1:80,730,758...80,745,273
Ensembl chr 1:80,730,499...80,744,831
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Cebpa
CCAAT/enhancer binding protein alpha
ISO
mRNA, protein:increased expression:hippocampus CA1, thalamus (mouse)
RGD
PMID:23392676
RGD:10401270
NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
protein:increased expression:astrocyte
RGD
PMID:11870871
RGD:4892001
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
protein:increased expression:microglial cell
RGD
PMID:11870871
RGD:4892001
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:17573907
RGD:40902830
NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
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Nfkb2
nuclear factor kappa B subunit 2
ISO
RGD
PMID:17573907
RGD:40902830
NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
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Notch1
notch receptor 1
ISO
RGD
PMID:15640354
RGD:13782159
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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Plau
plasminogen activator, urokinase
ISO
mRNA:increased expression:hippocampus
RGD
PMID:19459212
RGD:6483816
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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Plaur
plasminogen activator, urokinase receptor
ISO
mRNA:increased expression:hippocampus
RGD
PMID:19459212
RGD:6483816
NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
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Prnp
prion protein
ISO
ClinVar Annotator: match by term: Genetic prion diseases ClinVar Annotator: match by term: Prion disease, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2180366 PMID:2190844 PMID:2253724 PMID:2378641 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7501157 PMID:7902693 PMID:7902971 PMID:7902972 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7954833 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8570627 PMID:8618678 PMID:8698234 PMID:8909447 PMID:8939199 PMID:9266722 PMID:9270595 PMID:9279329 PMID:9452375 PMID:9482303 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10506086 PMID:10526198 PMID:10581230 PMID:10581485 PMID:10588836 PMID:10612329 PMID:10665501 PMID:10698707 PMID:10889050 PMID:10953183 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11701772 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:11994310 PMID:12372829 PMID:12420099 PMID:12451207 PMID:12601712 PMID:12690204 PMID:12813570 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15753435 PMID:15824374 PMID:15987701 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16831973 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17257012 PMID:17274528 PMID:17494694 PMID:18955686 PMID:19675240 PMID:19696976 PMID:19703264 PMID:19812771 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:21269331 PMID:21298055 PMID:21416485 PMID:21839748 PMID:21909425 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25959220 PMID:26268049 PMID:26488179 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27803826 PMID:28492532 PMID:29382530
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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Sod1
superoxide dismutase 1
disease_progression
ISO
DNA:SNP:intron
RGD
PMID:23349894 , PMID:18559949
RGD:13782160 , RGD:13782161
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
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Bax
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:27921253
RGD:13782156
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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Casp3
caspase 3
ISO
RGD
PMID:27921253
RGD:13782156
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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Casp9
caspase 9
ISO
RGD
PMID:27921253
RGD:13782156
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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Ccl5
C-C motif chemokine ligand 5
ISO
RGD
PMID:22787236
RGD:13782158
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:18396336
RGD:5688145
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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Cd209a
CD209a antigen
ISO
RGD
PMID:27522473
RGD:40400758
NCBI chr12:2,341,960...2,347,543
Ensembl chr12:2,341,960...2,347,543
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Jak2
Janus kinase 2
ISO
protein:increased expression:brain
RGD
PMID:17897356
RGD:6483034
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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Negr1
neuronal growth regulator 1
ISO
RGD
PMID:29087046
RGD:40886276
NCBI chr 2:262,914,240...263,650,441
Ensembl chr 2:262,914,327...263,650,441
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Pdia3
protein disulfide isomerase family A, member 3
ISO
protein:increased expression:brain:
RGD
PMID:15772339
RGD:9999196
NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
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Prnp
prion protein
onset
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11701772 PMID:18717736 PMID:19486493 PMID:21533749 , PMID:29157304
RGD:15045596
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
RGD
PMID:16730863
RGD:38676483
NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11701772
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16412998
RGD:1581331
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased expression:brain
RGD
PMID:17897356
RGD:6483034
NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:brain, nucleus
RGD
PMID:17897356
RGD:6483034
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Prnp
prion protein
ISO
ClinVar Annotator: match by term: Spongiform encephalopathy with neuropsychiatric features
OMIM ClinVar
PMID:9266722 PMID:10581485 PMID:10612329 PMID:10953183 PMID:12813570 PMID:14610121 PMID:15824374 PMID:16831973 PMID:22108575 PMID:25741868 PMID:28492532
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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Il18
interleukin 18
treatment
ISO
RGD
PMID:16129701
RGD:8655932
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il5
interleukin 5
severity
ISO
RGD
PMID:9824515
RGD:11354934
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Ace
angiotensin I converting enzyme
ISO
DNA:insertion/deletion:
RGD
PMID:16741935
RGD:40400901
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Aqp4
aquaporin 4
ISO
RGD
PMID:21771203 , PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Il6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Vps37a
VPS37A subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:28492532 PMID:29473047
NCBI chr16:54,860,811...54,899,410
Ensembl chr16:54,860,868...54,899,347
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C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 , PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
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Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Nfkb1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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Tnfrsf18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 , PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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Zeb1
zinc finger E-box binding homeobox 1
ISS
OMIM:159580
MouseDO
NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:14636287
RGD:9491594
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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Becn1
beclin 1
ISO
associated with HIV infections;protein:increased expression:brain
RGD
PMID:21592995
RGD:6483316
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:18158733
RGD:5688146
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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Cd274
CD274 molecule
ISO
protein:increased expression: myeloid cells, microglia, astrocytes
RGD
PMID:20876353 , PMID:31105690
RGD:6893671 , RGD:40818239
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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E2f1
E2F transcription factor 1
ISO
associated with HIV Infections; protein:increased expression:brain, neuron, cytoplasm:
RGD
PMID:11896158
RGD:10401094
NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:30770561
RGD:39939045
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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Il1rl1
interleukin 1 receptor-like 1
severity
ISO
mRNA:increased expression:brain
RGD
PMID:27334012 , PMID:27334012
RGD:39457934 , RGD:39457934
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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Il33
interleukin 33
ISO
mRNA,protein:increased expression:brain,F4/80+ cell
RGD
PMID:27334012
RGD:39457934
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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Mmp9
matrix metallopeptidase 9
ISO
associated with influenza; protein:increased expression:serum
RGD
PMID:17529876
RGD:5130920
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
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Pdcd1
programmed cell death 1
ISO
protein:increased expression: CD8 T celll
RGD
PMID:31105690
RGD:40818239
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Rnasel
ribonuclease L
disease_progression
ISO
RGD
PMID:16809306
RGD:40902815
NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
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Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31415679
RGD:39128224
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
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Ccr5
C-C motif chemokine receptor 5
susceptibility
ISO
ClinVar Annotator: match by term: West nile virus, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Irf5
interferon regulatory factor 5
disease_progression
ISO
RGD
PMID:25031348
RGD:40924561
NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
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Mavs
mitochondrial antiviral signaling protein
severity
ISO
RGD
PMID:28094802
RGD:40903045
NCBI chr 3:123,776,147...123,790,572
Ensembl chr 3:123,776,181...123,790,567
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Rfc1
replication factor C subunit 1
susceptibility
ISO
DNA:silent mutation:CDS:p.P847P (rs2066786) (human)
RGD
PMID:21881118
RGD:41410434
NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:19790244
RGD:5508797
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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