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
xref: EFO:1001456 ; MESH:D002494 ; MONDO:0024619
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Sod2
superoxide dismutase 2
ISO
RGD
PMID:15337840
RGD:1581246
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168
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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 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
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Il33
interleukin 33
ISO
protein:increased expression:brain:
RGD
PMID:23148283 PMID:24076431
RGD:40400713 , RGD:40400715
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
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Il5
interleukin 5
ISO
RGD
PMID:8361777
RGD:11354948
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:38,375,132...38,378,003
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Mag
myelin-associated glycoprotein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:95,275,635...95,291,060
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Mbp
myelin basic protein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174
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Mobp
myelin-associated oligodendrocyte basic protein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr 8:128,747,117...128,777,238
Ensembl chr 8:128,747,232...128,777,936
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Ache
acetylcholinesterase
ISO
RGD
PMID:21303225
RGD:5688130
NCBI chr12:25,042,882...25,050,608
Ensembl chr12:25,043,461...25,050,410
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Bche
butyrylcholinesterase
ISO
protein:increased expression:blood
RGD
PMID:21303225
RGD:5688130
NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760
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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 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657
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Cd46
CD46 molecule
ISO
RGD
PMID:16948860
RGD:6483465
NCBI chr13:109,104,122...109,134,903
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:cerebrospinal fluid (human)
RGD
PMID:11986266
RGD:4892662
NCBI chr13:48,193,839...48,201,822
Ensembl chr13:48,193,800...48,201,825
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Crp
C-reactive protein
ISO
protein:increased expression:serum:
RGD
PMID:6122844
RGD:9491388
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:10430840
RGD:8547971
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
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Ngf
nerve growth factor
IEP
mRNA:decreased expression:hippocampus:
RGD
PMID:22683802
RGD:8655554
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA, protein:increased expression:hippocampus
RGD
PMID:16141791
RGD:5684920
NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628
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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 chr13:94,839,484...94,871,295
Ensembl chr13:94,839,433...94,871,567
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:15105355
RGD:5508818
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081
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Trem1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:16786330
RGD:126928126
NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:20,261,408...20,276,892
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Aldoc
aldolase, fructose-bisphosphate C
IEP
mRNA, protein:decreased expression:cerebellum, Purkinje cell
RGD
PMID:17182680
RGD:2301132
NCBI chr10:63,715,544...63,719,133
Ensembl chr10:63,715,489...63,719,133
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Atf4
activating transcription factor 4
IEP
protein:increased expression:cerebellum
RGD
PMID:16912310
RGD:32733622
NCBI chr 7:113,684,681...113,686,739
Ensembl chr 7:113,684,681...113,686,739
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Atf6
activating transcription factor 6
IEP
protein:increased expression:cerebellum, hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr13:85,460,312...85,639,959
Ensembl chr13:85,462,840...85,640,033
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Bdnf
brain-derived neurotrophic factor
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657
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Cd44
CD44 molecule
IEP
RGD
PMID:16612977
RGD:2289373
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:109,612,054...109,699,424
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:12053272
RGD:4891998
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
mRNA:increased expression:brain
RGD
PMID:12053272
RGD:4891998
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983
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Ddit3
DNA-damage inducible transcript 3
IEP
mRNA,protein:increased expression:cerebellum, hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:65,005,501...65,006,509
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Eif2a
eukaryotic translation initiation factor 2A
IEP
protein:increased expression:cerebellum,hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr 2:144,911,247...144,944,705
Ensembl chr 2:144,911,153...144,945,201
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Gja1
gap junction protein, alpha 1
IEP
RGD
PMID:18538309
RGD:7364785
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689
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Gjb6
gap junction protein, beta 6
IEP
RGD
PMID:18538309
RGD:7364785
NCBI chr15:35,400,147...35,410,649
Ensembl chr15:35,398,770...35,410,849
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Igf1
insulin-like growth factor 1
IEP
mRNA:increased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764
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Il16
interleukin 16
IEP
protein:increased expression:brain
RGD
PMID:14698845
RGD:1354526
NCBI chr 1:147,026,852...147,127,177
Ensembl chr 1:147,027,097...147,127,023
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Mif
macrophage migration inhibitory factor
IEP
protein:increased expression:astrocyte
RGD
PMID:11870869
RGD:1642006
NCBI chr20:12,767,138...12,791,222
Ensembl chr 4:134,041,774...134,042,121 Ensembl chr20:134,041,774...134,042,121
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Mt3
metallothionein 3
IEP
RGD
PMID:16612977
RGD:2289373
NCBI chr19:10,854,676...10,856,080
Ensembl chr19:10,854,677...10,856,080
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Ngf
nerve growth factor
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834
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Ntf3
neurotrophin 3
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:160,600,770...160,676,349
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Ntrk2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:decreased expression:cerebellum,hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628
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Ntrk3
neurotrophic receptor tyrosine kinase 3
IEP
mRNA:decreased expression:cerebellum,hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 1:141,526,192...141,913,575
Ensembl chr 1:141,542,569...141,913,004
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Parg
poly (ADP-ribose) glycohydrolase
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:18057239
RGD:2316738
NCBI chr16:7,442,696...7,550,585
Ensembl chr16:7,442,726...7,550,584
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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 chr13:94,839,484...94,871,295
Ensembl chr13:94,839,433...94,871,567
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S100b
S100 calcium binding protein B
IEP
protein:decreased expression:cerebellum, cerebral cortex
RGD
PMID:17376896
RGD:5508841
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081
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Slc6a4
solute carrier family 6 member 4
IEP
protein:increased expression:brain (rat)
RGD
PMID:12106671
RGD:38549588
NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056
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Xbp1
X-box binding protein 1
IEP
mRNA,protein:altered expression:cerebellum,hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr14:84,604,623...84,609,707
Ensembl chr14:84,604,107...84,609,706
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:16239543
RGD:8552881
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:19660546
RGD:2325963
NCBI chr10:41,710,540...42,030,105
Ensembl chr10:41,711,080...42,030,309
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:19660546
RGD:2325963
NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378
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Plat
plasminogen activator, tissue type
IEP
protein:increased expression:cerebellum (rat)
RGD
PMID:19279110
RGD:11537478
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696
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Prnp
prion protein
ISO
ClinVar Annotator: match by term: Amyloidosis cerebral with spongiform encephalopathy
ClinVar
PMID:1351274 PMID:1353341 PMID:1363810 PMID:1404799 PMID:1469441 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:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8880705 PMID:9279329 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:10665501 PMID:10889050 PMID:10953203 PMID:10970892 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12451207 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19680558 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20932979 PMID:21269331 PMID:21298055 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26268049 PMID:26323476 PMID:26578040 PMID:26740554 PMID:26791950 PMID:27341347 PMID:27803826 PMID:28492532 PMID:29382530 PMID:29704165 PMID:29887139 PMID:32998248 More...
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436
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Ace2
angiotensin converting enzyme 2
susceptibility
ISO
DNA:SNP:intron 1: C>T
RGD
PMID:20117248
RGD:40818420
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:33,925,458...33,971,596
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Aqp4
aquaporin 4
disease_progression
ISO
protein:increased expression:astrocyte:
RGD
PMID:21904632
RGD:8698661
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098
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Cast
calpastatin
ISO
protein:increased express:brain
RGD
PMID:16236382
RGD:5509817
NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:5,707,640...5,817,180
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Cd36
CD36 molecule
ISO
RGD
PMID:17367535
RGD:6893527
NCBI chr 4:18,209,088...18,302,142
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Clec12a
C-type lectin domain family 12, member A
ameliorates
ISO
RGD
PMID:31269448
RGD:41412201
NCBI chr 4:164,484,162...164,502,793
Ensembl chr 4:164,484,162...164,510,233
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:25682948
RGD:40400741
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
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Il33
interleukin 33
treatment
ISO
protein:increased expression:brain
RGD
PMID:25659095 PMID:25682948
RGD:39938955 , RGD:40400741
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
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Jak3
Janus kinase 3
ISO
RGD
PMID:22363534
RGD:11531103
NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,420,415...18,433,222
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Lta
lymphotoxin alpha
ISO
RGD
PMID:12021316
RGD:10449455
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533
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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 chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:25775137
RGD:38599200
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:54,478,603...54,529,509
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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 5:125,036,945...125,109,010
Ensembl chr 5:125,042,179...125,108,324
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:12228317
RGD:5131158
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:162,353,848...162,387,411
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20156658
RGD:40902838
NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*01:03, HLA-DQA1*03:02 (human)
RGD
PMID:26856406
RGD:126928144
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
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Aldh1a1
aldehyde dehydrogenase 1 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 1:227,426,939...227,579,497
Ensembl chr 1:227,427,070...227,579,500
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Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr13:85,460,312...85,639,959
Ensembl chr13:85,462,840...85,640,033
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Cped1
cadherin-like and PC-esterase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 4:51,482,497...51,755,440
Ensembl chr 4:51,482,545...51,755,442
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Ctss
cathepsin S
ISO
RGD
PMID:12368333
RGD:5686913
NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:185,775,296...185,803,440
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Galc
galactosylceramidase
ISO
mRNA:decreased expression:frontal cortex (human)
RGD
PMID:30009661
RGD:38599170
NCBI chr 6:123,182,636...123,252,024
Ensembl chr 6:123,182,643...123,245,578
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Il1a
interleukin 1 alpha
ISO
mRNA:increased expression:brain:
RGD
PMID:8790403
RGD:10045948
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
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Klrc2
killer cell lectin like receptor C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 4:164,808,722...164,819,865
Ensembl chr 4:164,808,722...164,819,865
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Krt73
keratin 73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 7:134,806,517...134,815,028
Ensembl chr 7:134,806,517...134,815,028
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Mapt
microtubule-associated protein tau
ISO
protein:increased expression:CSF (human) protein:increased expression:CSF, serum (human)
RGD
PMID:31541342 PMID:29368621 PMID:27929120 PMID:30309804
RGD:127284880 , RGD:127284889 , RGD:127284887 , RGD:127284881
NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108
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Msl3l2
male-specific lethal 3-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr20:36,011,381...36,019,529
Ensembl chr20:36,011,380...36,019,530
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Nefh
neurofilament heavy chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:27929120
RGD:127284887
NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417
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Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human) protein:increased expression:CSF, serum (human)
RGD
PMID:31541342 PMID:29368621 PMID:27929120 PMID:30309804
RGD:127284880 , RGD:127284889 , RGD:127284887 , RGD:127284881
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
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Prnp
prion protein
ISO ISS
DNA:mutation ClinVar Annotator: match by term: Creutzfeldt-Jakob Disease, Familial OMIM:123400 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1469441 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:2458274 PMID:2564168 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8880705 PMID:8909447 PMID:9279329 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:10665501 PMID:10889050 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12451207 PMID:12572668 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15739100 PMID:15753435 PMID:15776279 PMID:15967879 PMID:15987701 PMID:16187142 PMID:16217673 PMID:16314483 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20932979 PMID:21269331 PMID:21298055 PMID:21552571 PMID:21791975 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22488860 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23320809 PMID:23349890 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25450391 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26268049 PMID:26488179 PMID:26578040 PMID:26740554 PMID:26791950 PMID:27341347 PMID:27803826 PMID:28492532 PMID:29382530 PMID:29704165 PMID:29887139 PMID:32998248 PMID:1684755 More...
RGD:1599946
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
mRNA, protein:increased expression:macrophage, endothelial cell
RGD
PMID:12663931
RGD:5688237
NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:39,981,415...40,002,990
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:neuron
RGD
PMID:12663931
RGD:5688237
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:serum (human)
RGD
PMID:20855493 PMID:27929120
RGD:5508781 , RGD:127284887
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081
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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 6:128,829,569...128,836,844
Ensembl chr 6:128,829,569...128,836,839
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Serpina3n
serpin family A member 3N
ISO
mRNA,protein:increased expression:frontal cortex:
RGD
PMID:29142239
RGD:36947868
NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:129,088,398...129,097,415
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Snca
synuclein alpha
ISO
protein:increased expression:cerebral spinal fluid:
RGD
PMID:18625222
RGD:13506723
NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315
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Snora16b
small nucleolar RNA, H/ACA box 16B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 8:10,653,778...10,653,910
Ensembl chr 8:10,653,778...10,653,910
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Srd5a3
steroid 5 alpha-reductase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr14:32,400,603...32,414,987
Ensembl chr14:32,400,603...32,415,117
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Stx1a
syntaxin 1A
ISO
RGD
PMID:10842016
RGD:1581434
NCBI chr12:27,278,517...27,306,547
Ensembl chr12:27,278,517...27,306,471
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Tubb2a
tubulin, beta 2A class IIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr17:31,002,186...31,006,057
Ensembl chr17:30,983,387...31,006,838
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Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
protein:increased expression:CSF (human)
RGD
PMID:31541342 PMID:27929120 PMID:30309804
RGD:127284880 , RGD:127284887 , RGD:127284881
NCBI chr12:26,381,106...26,409,466
Ensembl chr12:26,380,816...26,409,465
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Cd274
CD274 molecule
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
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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 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:29058791 PMID:29058791
RGD:41412178 , RGD:41412178
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
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Snora31
small nucleolar RNA, H/ACA box 31
susceptibility
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
OMIM ClinVar
PMID:31806906
NCBI chr15:57,568,564...57,568,693
Ensembl chr15:57,568,564...57,568,693
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Tpt1
tumor protein, translationally-controlled 1
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
ClinVar
PMID:31806906
NCBI chr15:57,562,217...57,568,968
Ensembl chr15:57,566,067...57,569,554
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Tlr7
toll-like receptor 7
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr X:30,644,324...30,670,796
Ensembl chr X:30,644,355...30,672,151
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Mir146a
microRNA 146a
susceptibility
ISO
miRNA:SNP: (rs57095329) (human)
RGD
PMID:29216791
RGD:126925194
NCBI chr10:28,349,996...28,350,090
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Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:30048013
RGD:127285394
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
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Prnp
prion protein
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fatal familial insomnia OMIM:600072
CTD ClinVar OMIM MouseDO
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 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:8880705 PMID:9270595 PMID:9279329 PMID:9531435 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9786248 PMID:9789072 PMID:9813003 PMID:10050890 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10588836 PMID:10665501 PMID:10889050 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:12451207 PMID:12590162 PMID:12601712 PMID:12707239 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15607392 PMID:15987701 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19543376 PMID:19680558 PMID:19703264 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20932979 PMID:21269331 PMID:21298055 PMID:21616973 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22788868 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:26000326 PMID:26169204 PMID:26268049 PMID:26488179 PMID:26578040 PMID:26740554 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27649893 PMID:27803826 PMID:28492532 PMID:28567093 PMID:29092967 PMID:29382530 PMID:29704165 PMID:29887139 PMID:29887141 PMID:32775516 PMID:32998248 More...
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436
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Prnp
prion protein
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | ClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler type | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome OMIM:137440
CTD ClinVar OMIM MouseDO
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:8880705 PMID:8939199 PMID:9270595 PMID:9279329 PMID:9452375 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9786248 PMID:9789072 PMID:9813003 PMID:10050890 PMID:10079068 PMID:10090891 PMID:10203975 PMID:10360778 PMID:10437852 PMID:10506086 PMID:10526198 PMID:10581230 PMID:10581485 PMID:10588836 PMID:10631141 PMID:10665501 PMID:10698707 PMID:10790216 PMID:10889050 PMID:10953183 PMID:10953203 PMID:10970892 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11568919 PMID:11704923 PMID:11709001 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12372829 PMID:12451207 PMID:12590162 PMID:12601712 PMID:12707239 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15607392 PMID:15824374 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16565881 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17353478 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19225789 PMID:19422533 PMID:19422537 PMID:19543376 PMID:19675240 PMID:19680558 PMID:19696976 PMID:19703264 PMID:19911184 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20932979 PMID:21269331 PMID:21298055 PMID:21416485 PMID:21616973 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22788868 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:24583440 PMID:24838726 PMID:24958194 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26000326 PMID:26169204 PMID:26268049 PMID:26323476 PMID:26488179 PMID:26578040 PMID:26740554 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27649893 PMID:27716661 PMID:27803826 PMID:28492532 PMID:28567093 PMID:29092967 PMID:29382530 PMID:29458424 PMID:29704165 PMID:29887139 PMID:29887141 PMID:32775516 PMID:32986314 PMID:32998248 More...
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436
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Fcgr2a
Fc gamma receptor 2A
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:8648541
RGD:11040885
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394 Ensembl chr13:85,855,437...85,864,394
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
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Aqp4
aquaporin 4
ISO
RGD
PMID:17454447
RGD:8698664
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098
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Calca
calcitonin-related polypeptide alpha
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:178,312,638...178,317,529
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Calcr
calcitonin receptor
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 4:32,615,955...32,691,075
Ensembl chr 4:32,615,958...32,691,075
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:23391218
RGD:8551839
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983
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Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:58,621,327...58,647,240
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Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:26872602
RGD:39939003
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
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Irf3
interferon regulatory factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:104,616,608...104,621,402
Ensembl chr 1:104,616,469...104,621,401
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Lta
lymphotoxin alpha
ISO
RGD
PMID:11145686
RGD:8548806
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
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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 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
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Ticam1
TIR domain containing adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:1,189,717...1,197,730
Ensembl chr 9:1,172,963...1,196,892
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Tlr2
toll-like receptor 2
disease_progression
ISO IEP
RGD
PMID:14739339 PMID:20806060
RGD:8553026 , RGD:5130178
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Tlr3
toll-like receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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Tlr4
toll-like receptor 4
IEP
RGD
PMID:20806060
RGD:5130178
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Tlr9
toll-like receptor 9
resistance
IEP
mRNA:increased expression:cheek (rat)
RGD
PMID:20806060
RGD:5130178
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
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Traf3
Tnf receptor-associated factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:136,025,097...136,128,363
Ensembl chr 6:136,027,157...136,128,363
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:210,596,639...210,607,579
Ensembl chr 1:210,573,288...210,607,579
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Ankrd37
ankyrin repeat domain 37
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,001,487...53,004,545
Ensembl chr16:52,994,740...53,004,545
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Ccdc110
coiled-coil domain containing 110
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,048,305...53,069,606
Ensembl chr16:53,047,965...53,069,777
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Cfap96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,023,623...53,048,176
Ensembl chr16:53,023,878...53,048,965
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Cfap97
cilia and flagella associated protein 97
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:52,818,693...52,867,775
Ensembl chr16:52,818,697...52,868,061
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Cyp4v3
cytochrome P450, family 4, subfamily v, polypeptide 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,650,978...53,675,916
Ensembl chr16:53,650,569...53,676,746
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F11
coagulation factor XI
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,720,502...53,741,547
Ensembl chr16:53,718,621...53,740,941
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Fam149a
family with sequence similarity 149, member A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,587,841...53,647,072
Ensembl chr16:53,587,841...53,647,072
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,909,759...54,029,175
Ensembl chr16:53,909,556...54,028,609
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Klkb1
kallikrein B1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,690,180...53,714,570
Ensembl chr16:53,691,220...53,716,339
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Lrp2bp
Lrp2 binding protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:52,976,005...53,001,952
Ensembl chr16:52,976,006...53,001,699
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Mtnr1a
melatonin receptor 1A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,876,964...53,896,421
Ensembl chr16:53,876,964...53,896,421
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Pdlim3
PDZ and LIM domain 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,085,020...53,116,495
Ensembl chr16:53,085,020...53,116,217
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Slc25a4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700
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Snx25
sorting nexin 25
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:52,867,102...52,971,028
Ensembl chr16:52,858,532...52,971,008
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Sorbs2
sorbin and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,167,795...53,481,300
Ensembl chr16:53,167,827...53,358,986
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Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:25700176 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532
NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:58,963,325...58,996,357
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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:9536098 PMID:15042513 PMID:16199547 PMID:17434873 PMID:17576681 PMID:17872438 PMID:19625408 PMID:19763152 PMID:20307669 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:22406018 PMID:24033266 PMID:25118264 PMID:25339207 PMID:25629076 PMID:25741868 PMID:26513235 PMID:27872624 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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Ufsp2
UFM1-specific peptidase 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:53,004,590...53,023,640
Ensembl chr16:53,004,598...53,023,592
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:210,596,639...210,607,579
Ensembl chr 1:210,573,288...210,607,579
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Ticam1
TIR domain containing adaptor molecule 1
susceptibility
ISO
ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
OMIM ClinVar
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532
NCBI chr 9:1,189,717...1,197,730
Ensembl chr 9:1,172,963...1,196,892
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Irf3
interferon regulatory factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | ClinVar Annotator: match by term: IRF3-related condition
OMIM ClinVar
PMID:25741868 PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr 1:104,616,608...104,621,402
Ensembl chr 1:104,616,469...104,621,401
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App
amyloid beta precursor protein
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971
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Bace1
beta-secretase 1
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chr 8:55,038,842...55,061,138
Ensembl chr 8:55,038,823...55,064,918
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Cd68
Cd68 molecule
ISO
protein:increased expression:brain (human)
RGD
PMID:15488024
RGD:40925943
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
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Cdk5
cyclin-dependent kinase 5
IDA
protein:increased tyrosine phosphorylation:hippocampus
RGD
PMID:28107387
RGD:13506927
NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:11,647,141...11,652,777
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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 2:117,240,525...117,288,017
Ensembl chr 2:117,241,759...117,290,190
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Olig2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:15579294
RGD:40902823
NCBI chr11:43,961,585...43,964,961
Ensembl chr11:43,958,940...43,968,634
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C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
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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:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:136,253,278...136,260,085
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Ifnl1
interferon, lambda 1
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr 1:92,926,184...92,927,830
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
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Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
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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 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
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Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
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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 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
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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 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576
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Zeb1
zinc finger E-box binding homeobox 1
ISS
OMIM:159580
MouseDO
NCBI chr17:56,644,397...56,811,155
Ensembl chr17:56,644,397...56,810,745
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Adam33
ADAM metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,715,428...138,736,392
Ensembl chr 3:138,724,046...138,736,347
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Adissp
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,817,752...138,832,208
Ensembl chr 3:138,813,179...138,831,847
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Adra1d
adrenoceptor alpha 1D
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:139,246,333...139,262,331
Ensembl chr 3:139,246,323...139,262,331
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Ap5s1
adaptor related protein complex 5 subunit sigma 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,882,634...138,885,940
Ensembl chr 3:138,882,634...138,888,899
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Atrn
attractin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,563,271...138,697,360
Ensembl chr 3:138,563,312...138,697,360
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Avp
arginine vasopressin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:138,246,554...138,248,522
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Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760
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Cdc25b
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,860,148...138,870,287
Ensembl chr 3:138,860,130...138,870,492
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Cds2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:139,967,870...140,006,459
Ensembl chr 3:139,967,742...140,009,201
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Cenpb
centromere protein B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,850,003...138,852,796
Ensembl chr 3:138,841,679...138,854,372
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Chgb
chromogranin B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:140,496,712...140,510,057
Ensembl chr 3:140,495,951...140,510,054
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Cpxm1
carboxypeptidase X (M14 family), member 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,041,645...138,048,443
Ensembl chr 3:138,041,645...138,048,857
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Crls1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:140,572,680...140,591,543
Ensembl chr 3:140,572,716...140,591,599
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Ddrgk1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,315,006...138,336,691
Ensembl chr 3:138,315,282...138,335,766
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Dnaaf9
dynein axonemal assembly factor 9
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,370,971...138,505,711
Ensembl chr 3:138,372,531...138,505,695
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Ebf4
EBF family member 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:137,951,310...138,019,682
Ensembl chr 3:137,951,335...138,019,665
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Fastkd5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,283,315...138,300,803
Ensembl chr 3:138,272,928...138,301,291
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Fermt1
FERM domain containing kindlin 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:140,624,434...140,666,419
Ensembl chr 3:140,624,434...140,666,419
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Gfra4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,707,970...138,715,279
Ensembl chr 3:138,703,114...138,711,561
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Gpcpd1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:140,240,574...140,285,469
Ensembl chr 3:140,240,575...140,285,372
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Hspa12b
heat shock protein family A (Hsp70) member 12B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,799,396...138,817,396
Ensembl chr 3:138,799,398...138,818,935
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Idh3b
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:137,934,697...137,940,107
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Itpa
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:138,338,349...138,350,329
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Lrrn4
leucine rich repeat neuronal 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:140,592,303...140,603,986
Ensembl chr 3:140,592,076...140,605,574
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Lzts3
leucine zipper tumor suppressor family member 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,303,378...138,313,645
Ensembl chr 3:138,303,378...138,313,611
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Mavs
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126
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Mcm8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:140,539,590...140,569,891
Ensembl chr 3:140,539,647...140,569,891
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Mir103a2
microRNA 103a-2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,963,227...138,963,312
Ensembl chr 3:138,963,227...138,963,312
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Mrps26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,222,324...138,223,987
Ensembl chr 3:138,222,165...138,223,987
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Nop56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:137,926,187...137,934,971
Ensembl chr 3:137,929,646...137,934,959
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:138,235,754...138,236,594
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Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194
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Pced1a
PC-esterase domain containing 1A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,049,747...138,076,107
Ensembl chr 3:138,067,891...138,075,146
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Pcna
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:139,951,941...139,955,901
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Pdyn
prodynorphin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:137,354,161...137,366,503
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Prnd
prion like protein doppel
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:139,666,383...139,671,647
Ensembl chr 3:139,666,068...139,671,890
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
CTD ClinVar OMIM
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:2458274 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:8880705 PMID:8909447 PMID:8939199 PMID:9266722 PMID:9270595 PMID:9279329 PMID:9384372 PMID:9482303 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9786248 PMID:9789072 PMID:9813003 PMID:10050890 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10588836 PMID:10612329 PMID:10631141 PMID:10665501 PMID:10790216 PMID:10889050 PMID:10953203 PMID:10970892 PMID:10987652 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11568919 PMID:11709001 PMID:11749972 PMID:11756421 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12372829 PMID:12420099 PMID:12451207 PMID:12590162 PMID:12601712 PMID:12690204 PMID:12707239 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15304595 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15558291 PMID:15607392 PMID:15739100 PMID:15753435 PMID:15776279 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16187142 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16314483 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16914329 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:17666888 PMID:17851697 PMID:18425766 PMID:18455951 PMID:18478114 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19543376 PMID:19680558 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:20932979 PMID:21107135 PMID:21269331 PMID:21298055 PMID:21416485 PMID:21552571 PMID:21616973 PMID:21791975 PMID:21839748 PMID:21904617 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22488860 PMID:22561193 PMID:22584955 PMID:22717776 PMID:22788868 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23261545 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:23871665 PMID:24583440 PMID:24838726 PMID:24958194 PMID:25022973 PMID:25064618 PMID:25279981 PMID:25450391 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26000326 PMID:26169204 PMID:26268049 PMID:26323476 PMID:26488179 PMID:26578040 PMID:26713717 PMID:26740554 PMID:26757195 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27649893 PMID:27716661 PMID:27803826 PMID:28314738 PMID:28492532 PMID:28567093 PMID:29092967 PMID:29382530 PMID:29458424 PMID:29704165 PMID:29887139 PMID:29887141 PMID:31447551 PMID:32317127 PMID:32775516 PMID:32986314 PMID:32998248 PMID:33731477 PMID:34663460 PMID:35812092 More...
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:140,077,629...140,092,327
Ensembl chr 3:140,077,630...140,092,093
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Ptpra
protein tyrosine phosphatase, receptor type, A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,103,261...138,212,835
Ensembl chr 3:138,098,110...138,213,126
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Rassf2
Ras association domain family member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:139,697,187...139,733,402
Ensembl chr 3:139,697,187...139,733,368
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Rnf24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,973,492...138,987,354
Ensembl chr 3:138,973,492...139,028,177
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Shld1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:140,391,611...140,462,273
Ensembl chr 3:140,389,220...140,462,609
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Siglec1
sialic acid binding Ig like lectin 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,740,171...138,759,966
Ensembl chr 3:138,741,019...138,759,881
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Slc23a2
solute carrier family 23 member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:139,755,583...139,913,304
Ensembl chr 3:139,755,584...139,847,343
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Slc4a11
solute carrier family 4 member 11
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,353,305...138,365,983
Ensembl chr 3:138,353,305...138,365,754
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Smox
spermine oxidase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:139,184,793...139,220,174
Ensembl chr 3:139,184,798...139,220,170 Ensembl chr X:139,184,798...139,220,170
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Snrpb
small nuclear ribonucleoprotein polypeptides B and B1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:137,824,870...137,832,479
Ensembl chr 3:137,824,683...137,832,515
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Spef1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,843,679...138,849,762
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Stk35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:137,465,884...137,498,554
Ensembl chr 3:137,470,110...137,498,940
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Tgm3
transglutaminase 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:137,681,809...137,717,219
Ensembl chr 3:137,681,809...137,717,219
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Tgm6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:137,771,368...137,809,000
Ensembl chr 3:137,774,630...137,807,873
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Tmc2
transmembrane channel-like 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:137,849,513...137,917,462
Ensembl chr 3:137,849,513...137,917,462
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Tmem230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:139,925,878...139,950,517
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Tmem239
transmembrane 239
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,057,799...138,059,090
Ensembl chr 3:138,053,765...138,063,665
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Trmt6
tRNA methyltransferase 6 non-catalytic subunit
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:140,527,785...140,539,520
Ensembl chr 3:140,527,788...140,539,509
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Ubox5
U-box domain containing 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,259,311...138,300,807
Ensembl chr 3:138,259,311...138,300,807
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Vps16
VPS16 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:138,075,649...138,097,154
Ensembl chr 3:138,075,660...138,110,632
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Adss1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,500,549...137,523,087
Ensembl chr 6:137,501,001...137,523,086
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Ahnak2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,648,867...137,697,580
Ensembl chr 6:137,652,537...137,675,546
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Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610
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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 6:136,132,567...136,140,008
Ensembl chr 6:136,132,567...136,140,008
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Ankrd9
ankyrin repeat domain 9
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,827,355...135,830,002
Ensembl chr 6:135,775,869...135,837,893
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Aspg
asparaginase
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,997,832...137,017,417
Ensembl chr 6:136,998,023...137,017,417
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Atp5mj
ATP synthase membrane subunit j
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,839,890...136,845,640
Ensembl chr 1:177,906,475...177,907,045 Ensembl chr 1:177,906,475...177,907,045
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Atp5mj-ps1
ATP synthase membrane subunit j, pseudogene 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 1:177,906,666...177,907,056
Ensembl chr 1:142,838,109...142,838,516
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Bag5
BAG cochaperone 5
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,589,623...136,593,278
Ensembl chr 6:136,584,741...136,598,492
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Brf1
BRF1 general transcription factor IIIB subunit
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,854,055...137,902,629
Ensembl chr 6:137,855,449...137,902,386
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Btbd6
BTB domain containing 6
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,879,202...137,881,662
Ensembl chr 6:137,879,162...137,881,652
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C6h14orf180
similar to human chromosome 14 open reading frame 180
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,378,336...137,393,892
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Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,154,905...136,241,259
Ensembl chr 6:136,154,905...136,237,570
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Cdca4
cell division cycle associated 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,713,390...137,722,652
Ensembl chr 6:137,713,051...137,722,580
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Cep170b
centrosomal protein 170B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,602,707...137,627,750
Ensembl chr 6:137,602,707...137,627,750
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Cinp
cyclin-dependent kinase 2-interacting protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,698,477...135,720,798
Ensembl chr 6:135,706,793...135,720,689
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Ckb
creatine kinase B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,550,583...136,553,464
Ensembl chr 6:136,549,844...136,553,478
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Clba1
clathrin binding box of aftiphilin containing 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,703,947...137,710,743
Ensembl chr 6:137,703,619...137,710,742
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Coa8
cytochrome c oxidase assembly factor 8
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,593,399...136,618,237
Ensembl chr 6:136,592,787...136,619,602
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:135,430,750...135,502,116
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Eif5
eukaryotic translation initiation factor 5
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,410,333...136,418,827
Ensembl chr 6:136,407,440...136,418,821
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Exoc3l4
exocyst complex component 3-like 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,273,857...136,287,877
Ensembl chr 6:136,273,854...136,287,881
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Gpr132
G protein-coupled receptor 132
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,745,142...137,763,037
Ensembl chr 6:137,745,241...137,763,157
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Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:135,523,616...135,528,499
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Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,470,259...137,497,039
Ensembl chr 6:137,470,286...137,497,039
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Jag2
jagged canonical Notch ligand 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,804,133...137,826,738
Ensembl chr 6:137,804,133...137,826,738
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Kif26a
kinesin family member 26A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,035,986...137,072,027
Ensembl chr 6:137,033,789...137,072,022
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Klc1
kinesin light chain 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,644,592...136,690,399
Ensembl chr 6:136,644,307...136,689,760
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Mark3
microtubule affinity regulating kinase 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,447,327...136,537,409
Ensembl chr 6:136,448,531...136,537,404
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Mok
MOK protein kinase
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,645,018...135,675,894
Ensembl chr 6:135,645,018...135,676,174
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Nudt14
nudix hydrolase 14
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,831,382...137,838,370
Ensembl chr 6:137,831,373...137,838,370
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Pacs2
phosphofurin acidic cluster sorting protein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,918,040...137,977,767
Ensembl chr 6:137,918,051...137,977,767
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Pld4
phospholipase D family, member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,639,948...137,647,462
Ensembl chr 6:137,639,945...137,649,024
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Ppp1r13b
protein phosphatase 1, regulatory subunit 13B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,711,834...136,785,068
Ensembl chr 6:136,711,834...136,785,113
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Ppp2r5c
protein phosphatase 2, regulatory subunit B', gamma
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,282,947...135,419,591
Ensembl chr 6:135,324,067...135,419,597
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Rcor1
REST corepressor 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,890,851...135,967,367
Ensembl chr 6:135,890,851...135,967,367
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Rd3l
RD3 like
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,863,424...136,865,328
Ensembl chr 6:136,863,335...136,865,313
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Siva1
SIVA1, apoptosis-inducing factor
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,526,416...137,530,790
Ensembl chr 6:137,526,031...137,530,790
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Tdrd9
tudor domain containing 9
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,850,797...136,966,225
Ensembl chr 6:136,850,812...136,966,225
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Tecpr2
tectonin beta-propeller repeat containing 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,720,765...135,823,187
Ensembl chr 6:135,720,656...135,823,187
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Tmem179
transmembrane protein 179
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,390,422...137,401,438
Ensembl chr 6:137,390,423...137,401,438
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Tnfaip2
TNF alpha induced protein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,297,388...136,311,106
Ensembl chr 6:136,298,082...136,311,106
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Traf3
Tnf receptor-associated factor 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3 related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:20832341 PMID:25741868 PMID:28492532 PMID:31681265 PMID:35960817 PMID:36004314 PMID:39579173 More...
NCBI chr 6:136,025,097...136,128,363
Ensembl chr 6:136,027,157...136,128,363
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Trmt61a
tRNA methyltransferase 61A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,558,417...136,564,411
Ensembl chr 6:136,558,391...136,564,410
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Wdr20
WD repeat domain 20
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,572,502...135,642,688
Ensembl chr 6:135,572,893...135,642,688
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Xrcc3
X-ray repair cross complementing 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,684,558...136,694,822
Ensembl chr 6:136,684,558...136,694,822
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Zbtb42
zinc finger and BTB domain containing 42
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,559,622...137,561,750
Ensembl chr 6:137,555,304...137,570,261
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Zfp839
zinc finger protein 839
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,686,132...135,711,856
Ensembl chr 6:135,687,100...135,704,299
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Zfyve21
zinc finger FYVE-type containing 21
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,695,132...136,715,601
Ensembl chr 6:136,694,908...136,715,601
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Tlr3
toll-like receptor 3
susceptibility
ISO
ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections
ClinVar OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
ISO
RGD
PMID:17010311
RGD:18337278
NCBI chr 5:155,958,116...155,959,897
Ensembl chr 5:155,957,878...155,961,058
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Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:32265853
RGD:127229907
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kuru, protection against | ClinVar Annotator: match by term: Kuru, susceptibility to
CTD OMIM ClinVar
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:8880705 PMID:9279329 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:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17494694 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19703264 PMID:19923577 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20932979 PMID:21269331 PMID:21298055 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:26061765 PMID:26268049 PMID:26578040 PMID:26740554 PMID:26791950 PMID:27341347 PMID:27803826 PMID:28492532 PMID:29382530 PMID:29704165 PMID:29887139 PMID:32998248 More...
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436
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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 chr13:85,782,490...85,792,651
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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 1:255,838,129...255,849,680
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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 1:192,089,542...192,139,943
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Selp
selectin P
ISO
RGD
PMID:20179168
RGD:6478687
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:79,009,475...79,044,987
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum (human)
RGD
PMID:16358960
RGD:11528571
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
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Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
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Il1b
interleukin 1 beta
IDA
RGD
PMID:23134838
RGD:7193053
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
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Cd274
CD274 molecule
ISO
RGD
PMID:23230000
RGD:41410802
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
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Clec12a
C-type lectin domain family 12, member A
disease_progression
ISO
RGD
PMID:31451663
RGD:41412202
NCBI chr 4:164,484,162...164,502,793
Ensembl chr 4:164,484,162...164,510,233
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Ifnar1
interferon alpha and beta receptor subunit 1
disease_progression
ISO
DNA:mutation: :
RGD
PMID:28878077 PMID:24760883
RGD:124715467 , RGD:124715479
NCBI chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205
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Ifngr1
interferon gamma receptor 1
ameliorates
ISO
RGD
PMID:22496215
RGD:124715469
NCBI chr 1:16,152,811...16,171,439
Ensembl chr 1:16,152,879...16,171,437
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Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:25829541
RGD:40400708
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:19478140
RGD:6892934
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:189,598,558...189,626,342
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Irf7
interferon regulatory factor 7
disease_progression
ISO
RGD
PMID:24760883 PMID:24760883
RGD:124715479 , RGD:124715479
NCBI chr 1:205,796,956...205,800,543
Ensembl chr 1:205,796,959...205,800,023
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Irf9
interferon regulatory factor 9
disease_progression ameliorates
ISO
DNA:mutation: :
RGD
PMID:28878077 PMID:24760883 PMID:22496215
RGD:124715467 , RGD:124715479 , RGD:124715469
NCBI chr15:33,065,422...33,071,881
Ensembl chr15:33,065,659...33,071,879
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
RGD
PMID:30995287
RGD:40818298
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20565293
RGD:40902858
NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088
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Nfkb2
nuclear factor kappa B subunit 2
disease_progression
ISO
RGD
PMID:20565293
RGD:40902858
NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:255,107,374...255,114,637
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:30726291 PMID:23230000
RGD:40818232 , RGD:41410802
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
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Stat1
signal transducer and activator of transcription 1
exacerbates
ISO
RGD
PMID:22496215
RGD:124715469
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
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Stat2
signal transducer and activator of transcription 2
ISO
RGD
PMID:32094187 PMID:24760883
RGD:42722006 , RGD:124715479
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
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Was
WASP actin nucleation promoting factor
ISO
RGD
PMID:23141740
RGD:38676258
NCBI chr X:17,077,057...17,085,802
Ensembl chr X:17,073,314...17,085,802
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636
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Tnf
tumor necrosis factor
ISO
RGD
PMID:10318940
RGD:10449456
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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C9
complement C9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9570574
NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:57,300,427...57,348,752
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Cd46
CD46 molecule
ISO
RGD
PMID:12869763
RGD:6483466
NCBI chr13:109,104,122...109,134,903
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Cfp
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8530058 PMID:10909851
NCBI chr X:3,715,551...3,721,113
Ensembl chr X:3,710,425...3,721,112
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Marco
macrophage receptor with collagenous structure
IEP
protein:increased expression:sub-cortical, meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr13:34,169,011...34,210,340
Ensembl chr13:34,169,011...34,201,255
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Mmp13
matrix metallopeptidase 13
IEP
RGD
PMID:10430840
RGD:8547971
NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:12,782,813...12,793,105
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Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:10430840
RGD:8547971
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
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Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
DNA:SNP,haplotype: :SNP8(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr19:34,555,832...34,596,281
Ensembl chr19:34,555,832...34,722,846
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238
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Tlr2
toll-like receptor 2
susceptibility
ISO
DNA:haplotype: :2477G>A(rs5743708)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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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 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Aif1
allograft inflammatory factor 1
IEP
protein:increased expression:brain (rat)
RGD
PMID:16150122
RGD:2313041
NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,652,243...3,657,339
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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 chr10:86,011,504...86,018,063
Ensembl chr10:86,011,495...86,018,063
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1430592
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
DNA:polymorphism: :HLA-DPB1*0201 (human)
RGD
PMID:22884298
RGD:150429795
NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574
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Trem2
triggering receptor expressed on myeloid cells 2
ISO
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
ClinVar
PMID:3681354 PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 PMID:15883308 PMID:18546367 PMID:21834902 PMID:23150934 PMID:23318515 PMID:23399524 PMID:23582655 PMID:23870839 PMID:24899047 PMID:24990881 PMID:25615530 PMID:25741868 PMID:27995897 PMID:28492532 PMID:28559417 PMID:28768830 PMID:29142083 PMID:29557178 PMID:30042649 PMID:30242731 PMID:33969597 More...
NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:20,144,334...20,151,779
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Tyrobp
transmembrane immune signaling adaptor Tyrobp
ISO ISS
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | ClinVar Annotator: match by term: TYROBP-related condition OMIM:221770 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 PMID:17430113 PMID:20500450 PMID:22082900 PMID:25741868 PMID:27658901 PMID:28492532 PMID:28620717 PMID:31996268 PMID:36133075 More...
NCBI chr 1:94,800,372...94,804,307
Ensembl chr 1:94,800,117...94,804,299
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Aqp4
aquaporin 4
sexual_dimorphism 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:24425068 PMID:26287559 PMID:22271321 PMID:18420727 PMID:23116879 PMID:23890015 PMID:23995423 PMID:20047900 More...
RGD:5148024 , RGD:598092477 , RGD:597830176 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098
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Cd59em1Ask
CD59 molecule; CRISPR/Cas9 induced mutant1, Ask
severity
IMP
RGD
PMID:28212662
RGD:13792592
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Cd59b
CD59b molecule
severity
IMP
RGD
PMID:28212662
RGD:13792592
NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:110,914,091...110,935,310
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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 chr10:88,352,986...88,361,685
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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 2:122,045,240...122,055,142
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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 4:5,889,999...5,894,610
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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 chr18:78,130,325...78,241,174
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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 3:174,084,123...174,111,442
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Mog
myelin oligodendrocyte glycoprotein
ISO
associated with acute disseminated encephalomyelitis
RGD
PMID:24425068
RGD:598092477
NCBI chr20:1,514,110...1,528,716
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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 chr14:84,044,023...84,054,417
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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 chr15:46,458,204...46,482,515
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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 chr20:4,598,475...4,604,118
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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 chr20:4,550,596...4,560,165
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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 chr20:12,372,348...12,381,081
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Nefl
neurofilament light chain
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
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Trem2
triggering receptor expressed on myeloid cells 2
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:20,144,334...20,151,779
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Adam17
ADAM metallopeptidase domain 17
treatment
IMP
RGD
PMID:24491581
RGD:13703038
NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:46,601,583...46,649,344
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Aqp4
aquaporin 4
treatment
ISO
protein:increased expression:brain:
RGD
PMID:15695511 PMID:15695511
RGD:8698660 , RGD:8698660
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098
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Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:15529270
RGD:126781748
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
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Camp
cathelicidin antimicrobial peptide
IEP
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chr 8:118,720,184...118,721,998
Ensembl chr 8:118,720,184...118,721,998
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
RGD
PMID:21109308
RGD:5134982
NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,477,549...17,479,811
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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:75,734,281...75,762,873
Ensembl chr X:75,734,270...75,763,050
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Cysltr2
cysteinyl leukotriene receptor 2
IEP
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr15:54,599,043...54,638,314
Ensembl chr15:54,598,818...54,713,597
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:24844751
RGD:39939118
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
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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 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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Lgals3
galectin 3
IEP
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chr15:23,099,795...23,111,731
Ensembl chr15:23,086,841...23,111,737
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Lgals9
galectin 9
IEP
RGD
PMID:17706429
RGD:9685206
NCBI chr10:64,405,044...64,428,249
Ensembl chr10:64,405,044...64,428,070
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Marco
macrophage receptor with collagenous structure
IEP
protein:increased expression:meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr13:34,169,011...34,210,340
Ensembl chr13:34,169,011...34,201,255
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Mmp2
matrix metallopeptidase 2
treatment
IMP
RGD
PMID:24419461
RGD:8657111
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
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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 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chr19:34,555,832...34,596,281
Ensembl chr19:34,555,832...34,722,846
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Ntrk2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628
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Rela
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817
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Serping1
serpin family G member 1
treatment
ISO
RGD
PMID:17538891
RGD:8661645
NCBI chr 3:90,249,410...90,259,299
Ensembl chr 3:90,249,423...90,258,717
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Tlr9
toll-like receptor 9
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
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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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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Pvr
PVR cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3020560 PMID:28446605
NCBI chr 1:88,689,235...88,704,641
Ensembl chr 1:88,688,981...88,704,630
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Bax
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:15618403
RGD:13782157
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429
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Bcl3
BCL3, transcription coactivator
severity
ISO
RGD
PMID:17573907
RGD:40902830
NCBI chr 1:88,599,321...88,613,555
Ensembl chr 1:88,599,321...88,614,368
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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 1:96,896,584...96,899,256
Ensembl chr 1:96,896,171...96,899,309
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
protein:increased expression:astrocyte
RGD
PMID:11870871
RGD:4892001
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999
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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 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:17573907
RGD:40902830
NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088
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Nfkb2
nuclear factor kappa B subunit 2
ISO
RGD
PMID:17573907
RGD:40902830
NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:255,107,374...255,114,637
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Notch1
notch receptor 1
ISO
RGD
PMID:15640354
RGD:13782159
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613
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Plau
plasminogen activator, urokinase
ISO
mRNA:increased expression:hippocampus
RGD
PMID:19459212
RGD:6483816
NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030
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Plaur
plasminogen activator, urokinase receptor
ISO
mRNA:increased expression:hippocampus
RGD
PMID:19459212
RGD:6483816
NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:89,178,453...89,198,130
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Ppia
peptidylprolyl isomerase A
exacerbates
ISO
RGD
PMID:31181281
RGD:150383343
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inherited prion disease | ClinVar Annotator: match by term: Prion disease, susceptibility to | ClinVar Annotator: match by term: Spongiform encephalopathy
CTD ClinVar
PMID:1351274 PMID:1353341 PMID:1363810 PMID:1404799 PMID:1469441 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:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8880705 PMID:9279329 PMID:9384372 PMID:9482303 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:10612329 PMID:10665501 PMID:10889050 PMID:10953203 PMID:10970892 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11701772 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:11994310 PMID:12172394 PMID:12420099 PMID:12451207 PMID:12601712 PMID:12690204 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15304595 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17257012 PMID:17274528 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19680558 PMID:19696976 PMID:19703264 PMID:19812771 PMID:19923577 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:20932979 PMID:21269331 PMID:21298055 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25022973 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26268049 PMID:26323476 PMID:26578040 PMID:26740554 PMID:26757195 PMID:26791950 PMID:27341347 PMID:27803826 PMID:28492532 PMID:29382530 PMID:29704165 PMID:29887139 PMID:30606247 PMID:32998248 More...
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436
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Sod1
superoxide dismutase 1
disease_progression
ISO
DNA:SNP:intron
RGD
PMID:23349894 PMID:18559949
RGD:13782160 , RGD:13782161
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
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Nefl
neurofilament light chain
ISO
associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human)
RGD
PMID:33903203 PMID:30761586
RGD:127284888 , RGD:127285025
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
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Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr13:85,460,312...85,639,959
Ensembl chr13:85,462,840...85,640,033
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Bax
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:27921253
RGD:13782156
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429
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Casp3
caspase 3
ISO
RGD
PMID:27921253
RGD:13782156
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732
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Casp9
caspase 9
ISO
RGD
PMID:27921253
RGD:13782156
Ensembl chr 5:159,391,188...159,409,648
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Ccl5
C-C motif chemokine ligand 5
ISO
RGD
PMID:22787236
RGD:13782158
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:18396336
RGD:5688145
NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374
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Cd209a
CD209a molecule
ISO
RGD
PMID:27522473
RGD:40400758
NCBI chr12:6,620,541...6,626,124
Ensembl chr12:6,620,541...6,626,124
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Cr2
complement C3d receptor 2
ISO
RGD
PMID:29202042
RGD:127285805
NCBI chr13:109,207,034...109,244,980
Ensembl chr13:109,213,867...109,244,552
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Jak2
Janus kinase 2
ISO
protein:increased expression:brain
RGD
PMID:17897356
RGD:6483034
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762
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Mir146a
microRNA 146a
ISO
miRNA:increased expression:brain, hippocampus, cerebellum (mouse)
RGD
PMID:22363497
RGD:126925151
NCBI chr10:28,349,996...28,350,090
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Negr1
neuronal growth regulator 1
ISO
RGD
PMID:29087046
RGD:40886276
NCBI chr 2:248,283,164...249,015,538
Ensembl chr 2:248,283,353...249,018,410
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Pdia3
protein disulfide isomerase family A, member 3
ISO
protein:increased expression:brain:
RGD
PMID:15772339
RGD:9999196
NCBI chr 3:128,841,781...128,865,733
Ensembl chr 3:128,841,917...128,867,327
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Prnp
prion protein
onset
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11701772 PMID:18717736 PMID:19486493 PMID:21533749 PMID:29157304
RGD:15045596
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436
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Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
RGD
PMID:16730863
RGD:38676483
NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11701772
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16412998
RGD:1581331
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased expression:brain
RGD
PMID:17897356
RGD:6483034
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
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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 chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spongiform encephalopathy with neuropsychiatric features
CTD OMIM ClinVar
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1469441 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:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8880705 PMID:9266722 PMID:9279329 PMID:9384372 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:10581485 PMID:10612329 PMID:10631141 PMID:10665501 PMID:10889050 PMID:10953183 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12451207 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15304595 PMID:15366237 PMID:15539564 PMID:15558291 PMID:15824374 PMID:15967879 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16565881 PMID:16831973 PMID:16969862 PMID:17029785 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20932979 PMID:21269331 PMID:21298055 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:26268049 PMID:26578040 PMID:26713717 PMID:26740554 PMID:26791950 PMID:27341347 PMID:27803826 PMID:28492532 PMID:29382530 PMID:29704165 PMID:29887139 PMID:32998248 PMID:33731477 More...
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436
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Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
ISO
RGD
PMID:19151623
RGD:10395347
NCBI chr 6:21,941,147...21,977,115
Ensembl chr 6:21,952,631...21,977,116
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Gucy1b1
guanylate cyclase 1 soluble subunit beta 1
ISO
RGD
PMID:15571982
RGD:10401946
NCBI chr 2:169,646,897...169,697,060
Ensembl chr 2:169,646,898...169,696,987
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Mapt
microtubule-associated protein tau
ISO
protein:increased expression:CSF, serum (human)
RGD
PMID:27929120
RGD:127284887
NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108
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Nefh
neurofilament heavy chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:27929120
RGD:127284887
NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417
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Nefl
neurofilament light chain
severity
ISO
protein:increased expression:CSF, serum (human) protein:increased expression:CSF (human)
RGD
PMID:27929120 PMID:29391125
RGD:127284887 , RGD:127285384
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:serum (human)
RGD
PMID:27929120
RGD:127284887
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081
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Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
protein:increased expression:CSF (human)
RGD
PMID:27929120
RGD:127284887
NCBI chr12:26,381,106...26,409,466
Ensembl chr12:26,380,816...26,409,465
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Mir146a
microRNA 146a
IEP
miRNA:decreased expression:brain (rat)
RGD
PMID:26155141
RGD:126925169
NCBI chr10:28,349,996...28,350,090
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Poldip2
DNA polymerase delta interacting protein 2
treatment
ISO
RGD
PMID:32790044
RGD:124713556
NCBI chr10:63,905,287...63,915,655
Ensembl chr10:63,904,691...63,915,655
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Il18
interleukin 18
treatment
ISO
RGD
PMID:16129701
RGD:8655932
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
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Il5
interleukin 5
severity
ISO
RGD
PMID:9824515
RGD:11354934
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:38,375,132...38,378,003
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Ace
angiotensin I converting enzyme
ISO
DNA:insertion/deletion:
RGD
PMID:16741935
RGD:40400901
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
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Ifnl1
interferon, lambda 1
ISO
protein:increased expression:blood serum (human)
RGD
PMID:30077763
RGD:126848745
NCBI chr 1:92,926,184...92,927,830
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Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
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Aqp4
aquaporin 4
ISO
RGD
PMID:21771203 PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098
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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 4:5,889,999...5,894,610
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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 chr16:58,440,950...58,478,831
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr18:57,912,760...57,914,802
Ensembl chr18:57,911,348...57,914,803
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Becn1
beclin 1
ISO
associated with HIV infections;protein:increased expression:brain
RGD
PMID:21592995
RGD:6483316
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,731,650...86,747,002
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:18158733
RGD:5688146
NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374
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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 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
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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 3:163,524,739...163,535,563
Ensembl chr 3:163,524,739...163,535,563
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:30770561
RGD:39939045
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
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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 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
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Il33
interleukin 33
ISO
mRNA,protein:increased expression:brain,F4/80+ cell
RGD
PMID:27334012
RGD:39457934
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
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Mmp9
matrix metallopeptidase 9
ISO
associated with influenza; protein:increased expression:serum
RGD
PMID:17529876
RGD:5130920
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
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Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:45,565,371...45,638,756
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Pdcd1
programmed cell death 1
ISO
protein:increased expression: CD8 T celll
RGD
PMID:31105690
RGD:40818239
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Ifih1
interferon induced with helicase C domain 1
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
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Lcn2
lipocalin 2
ISO
mRNA,protein:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842
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Rig1
RNA sensor RIG-1
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995
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Rnasel
ribonuclease L
disease_progression
ISO
RGD
PMID:16809306
RGD:40902815
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
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Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31415679
RGD:39128224
NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,606,196...27,611,947
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Tlr3
toll-like receptor 3
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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Ccr5
C-C motif chemokine receptor 5
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: West Nile virus, susceptibility to
CTD OMIM ClinVar
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:28492532 More...
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
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Irf5
interferon regulatory factor 5
disease_progression
ISO
RGD
PMID:25031348
RGD:40924561
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552
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Mavs
mitochondrial antiviral signaling protein
severity
ISO
RGD
PMID:28094802
RGD:40903045
NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126
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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 chr14:43,319,768...43,395,028
Ensembl chr14:43,319,935...43,395,026
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:19790244
RGD:5508797
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all