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: Flaviviridae Infections
Accession: DOID:9008551
browse the term
Definition: Infections with viruses of the family FLAVIVIRIDAE.
Synonyms: exact_synonym: Flaviviridae Infection; Flaviviridae infectious disease
primary_id: MESH:D018178
xref: EFO:0007274
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Ccr5
C-C motif chemokine receptor 5
ISO
associated with hepatitis G virus infection; protein:decreased expression: T lymphocyte:hepatitis G virus infection
RGD
PMID:12824783
RGD:14401734
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Mir155
microRNA 155
ISO
RGD
PMID:27765085
RGD:25671376
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Abca1
ATP binding cassette subfamily A member 1
severity
ISO
DNA:SNP:introns:(rs3890182, rs1883025) (human)
RGD
PMID:28164591
RGD:21066337
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Abcb11
ATP binding cassette subfamily B member 11
susceptibility disease_progression treatment
ISO
DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) DNA:SNP:cds:c.1331T>C (rs2287622)(human)
RGD
PMID:29755014 PMID:22681771 PMID:29091211
RGD:14402415 , RGD:14402416 , RGD:14402417
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb1a
ATP binding cassette subfamily B member 1A
susceptibility treatment
ISO
DNA:SNP::2677G>T/A(rs2032582)(human) DNA:SNP: :3435C>T(human)
RGD
PMID:26922556 PMID:29155127
RGD:11574565 , RGD:14700907
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Ace
angiotensin I converting enzyme
treatment
ISO IEP
protein:decreased expression:serum (human)
RGD
PMID:29641775 PMID:27147779 PMID:17106926
RGD:25671451 , RGD:25671456 , RGD:40400711
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adar
adenosine deaminase, RNA-specific
no_association treatment disease_progression
ISO
DNA:SNP:exon: (rs1127309) (human) DNA:snps, haplotype: (rs7515339, rs903323) (human) DNA:silent mutation:CDS:p.V849V (rs1127309) (human) associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human)
RGD
PMID:26911666 PMID:17979507 PMID:19434718 PMID:29906476
RGD:11554370 , RGD:38599150 , RGD:125097513 , RGD:125097514
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:26293833
RGD:14401718
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Aicda
activation-induced cytidine deaminase
disease_progression
ISO
mRNA:increased expression:B cell mRNA, protein:increased expression:B cell, CD19-positive (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26219420 PMID:20189883 PMID:26946048
RGD:30296664 , RGD:32716380 , RGD:32716369
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Ang
angiogenin
ISO
RGD
PMID:21848603
RGD:6892709
NCBI chr15:24,312,711...24,323,361
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Apoe
apolipoprotein E
severity
ISO
DNA:polymorphism:exon:
RGD
PMID:12143056
RGD:7495764
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Aurka
aurora kinase A
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
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Ccl2
C-C motif chemokine ligand 2
ISO
RNA:increased expression:liver:
RGD
PMID:24429361
RGD:14975280
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
severity disease_progression treatment
ISO
DNA:polymorphism:promoter:-403G>A(human) DNA:SNP: :rs3817656(human) mRNA:increased expression:liver: DNA:SNPs,haplotype: :
RGD
PMID:12557141 PMID:29703961 PMID:15770052 PMID:15368437
RGD:14995332 , RGD:14995334 , RGD:14995336 , RGD:14995340
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccnd2
cyclin D2
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Ccr5
C-C motif chemokine receptor 5
disease_progression treatment
ISO
DNA:deletion:cds:
RGD
PMID:12055576 PMID:12873822
RGD:14401729 , RGD:14401737
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:26554542
RGD:149735574
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd209d
CD209d molecule
ISO
DNA:SNPs,haplotypes:promoter: -939G>A, -871A>G (human)
RGD
PMID:27348632
RGD:39939007
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd226
CD226 molecule
treatment
ISO
RGD
PMID:21695691
RGD:40818295
NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051
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Cd274
CD274 molecule
ISO
protein:increased expression:peripheral blood mononuclear cell
RGD
PMID:18086898
RGD:41410796
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cldn1
claudin 1
susceptibility
ISO IEP
associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations mRNA:decreased expression:liver (human)
RGD
PMID:19674288 PMID:21412800
RGD:25330352 , RGD:26884350
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Clec4m
C-type lectin domain family 4 member M
disease_progression
ISO
DNA:polymorphism,repeats:exon4: allele 4 (human)
RGD
PMID:24283933
RGD:41410818
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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Cpt1a
carnitine palmitoyltransferase 1A
ISO
mRNA, protein:decreased expression:liver hepatocytes (human)
RGD
PMID:15685545
RGD:5683635
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Crp
C-reactive protein
ISO
RGD
PMID:22333691
RGD:6482311
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
treatment
ISO
DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human)
RGD
PMID:12696006
RGD:14398739
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:serum
RGD
PMID:31127759
RGD:27095949
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
severity
ISO
DNA:polymorphism:promoter: 1260C>A (rs10877012) (human)
RGD
PMID:21145801
RGD:25671413
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
protein:increased expression:serum:
RGD
PMID:10435724
RGD:11353781
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Foxp3
forkhead box P3
ISO
RGD
PMID:18673437
RGD:38548921
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Ggt1
gamma-glutamyltransferase 1
severity
ISO
RGD
PMID:10934805
RGD:14747019
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gpt
glutamic--pyruvic transaminase
ISO
protein:increased activity:plasma
RGD
PMID:22922605
RGD:14975251
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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Gpt2
glutamic--pyruvic transaminase 2
ISO
protein:increased activity:plasma
RGD
PMID:22922605
RGD:14975251
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:17397002
RGD:14700966
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
ISO
RGD
PMID:17397002
RGD:14700966
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human)
RGD
PMID:25605587
RGD:39939081
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ifna2
interferon alpha 2
treatment
ISO
associated with end stage renal disease
RGD
PMID:9187562 PMID:7493300 PMID:19152412 PMID:21272456 PMID:8868074 PMID:17881538 PMID:9310930 More...
RGD:40886308 , RGD:40886318 , RGD:40886316 , RGD:40886314 , RGD:40886313 , RGD:40886311 , RGD:40886310
NCBI chr 5:103,258,617...103,259,195
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Ifnl1
interferon, lambda 1
ameliorates
ISO
protein:increased expression:blood serum (human) mRNA,protein:increased expression:liver, blood serum (human) protein:altered expression:blood serum (human)
RGD
PMID:30926417 PMID:23071503 PMID:21145813
RGD:126848741 , RGD:126848749 , RGD:126848747
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Ifnl3
interferon, lambda 3
treatment disease_progression susceptibility
ISO
DNA:SNP: :rs8099917 (human) DNA:SNP:enhancer: (rs8099917) (human) DNA:SNP,haplotype:enhancer: (rs12979860,rs8099917) (human) DNA:SNP:enhancer: (rs12979860) (human) DNA:SNP:enhancer: (rs12979860,rs8099917) (human) DNA:SNP:5'utr: (rs12979860) (human) DNA:SNPs:3'utr, enhancer: (rs12980275, rs12979860) (human) DNA:SNP:3' utr: (rs4803217) (human) associated with Hemoglobinopathies;DNA:missense mutation, enhancer, haplotype:cds, :p.K70R, (rs12979860) (human)
RGD
PMID:23730840 PMID:24355007 PMID:24646752 PMID:28186161 PMID:26741362 PMID:24376784 PMID:27027531 PMID:25283962 PMID:28739427 PMID:25788203 PMID:28638221 PMID:21615377 More...
RGD:10766476 , RGD:11096670 , RGD:40886292 , RGD:40886290 , RGD:11344289 , RGD:40886281 , RGD:40886277 , RGD:40822824 , RGD:40400891 , RGD:14398733 , RGD:14398740 , RGD:11528556
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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Igf2
insulin-like growth factor 2
severity
ISO
DNA:SNPs, haplotype:multiple
RGD
PMID:16750516
RGD:14401723
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il10
interleukin 10
susceptibility no_association treatment
ISO
protein:increased expression:serum: DNA:polymorphism:promoter: DNA:SNP:promoter:-592C>A (rs1800872) (human) DNA:SNP:promoter: rs3021094, rs3024498 (human)
RGD
PMID:26095186 PMID:26095186 PMID:29247709 PMID:29247709 PMID:25708446
RGD:14700655 , RGD:14700655 , RGD:14975141 , RGD:14975141 , RGD:38456002
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12b
interleukin 12B
severity
ISO
DNA:SNP:3' utr:+1188A>C (human)
RGD
PMID:15871664
RGD:14401721
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il17d
interleukin 17D
severity
ISO
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human)
RGD
PMID:27875997
RGD:40903073
NCBI chr15:31,671,337...31,688,833
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Il18
interleukin 18
treatment disease_progression
ISO
DNA:SNP:promoter:-607C>A (rs1946518)(human)
RGD
PMID:25198668 PMID:19740312
RGD:14696651 , RGD:14696656
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il2
interleukin 2
treatment
ISO
RGD
PMID:12673448
RGD:14807336
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21
interleukin 21
ameliorates
ISO
protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human)
RGD
PMID:24170093
RGD:127285373
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il27
interleukin 27
ameliorates
ISO
DNA:SNP:promoter:-964A>G (rs153109) (human)
RGD
PMID:27221901
RGD:126790538
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il4
interleukin 4
treatment
ISO
DNA:SNPs:promoter:-590C>T,-33T>C (human) associated with factor VIII deficiency;protein:increased expression:serum:
RGD
PMID:22594992 PMID:23591975 PMID:25708446
RGD:14696678 , RGD:14696686 , RGD:38456002
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
treatment
ISO
DNA:SNPs:promoter:rs1800795 (human)
RGD
PMID:27812403
RGD:14975294
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Isg15
ISG15 ubiquitin-like modifier
treatment
ISO
RGD
PMID:28036111
RGD:40400915
NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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Itgb6
integrin subunit beta 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18221819
NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
severity
ISO
protein:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human)
RGD
PMID:19470388 PMID:27239111
RGD:38676473 , RGD:38676476
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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Klrc1
killer cell lectin like receptor C1
treatment
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:16322112 PMID:31218578 PMID:20550548
RGD:40818296 , RGD:40400920 , RGD:40818079
NCBI chr 4:163,142,142...163,152,425
Ensembl chr 4:163,147,189...163,152,425
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Klrk1
killer cell lectin like receptor K1
treatment disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) protein:decreased expression:liver,natural killer cell (human)
RGD
PMID:25965701 PMID:21168454 PMID:25148254
RGD:39018562 , RGD:40400738 , RGD:40813739
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Krt18
keratin 18
disease_progression severity
ISO
protein:increased expression:serum (human) protein:increased degradation:serum (human) protein:increased expression:liver, serum (human)
RGD
PMID:30839434 PMID:19333204 PMID:22404726 PMID:23820504
RGD:18337481 , RGD:18337493 , RGD:18337496 , RGD:18337500
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Krt8
keratin 8
ISO
protein:increased phosphorylation:liver (human)
RGD
PMID:15368451
RGD:14401583
NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
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Lep
leptin
IEP
protein:altered localization:serum (human)
RGD
PMID:11336170
RGD:21201249
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
ISO
mRNA:altered exression:PBMC,liver
RGD
PMID:17060687
RGD:21079470
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lgals3
galectin 3
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Mbl2
mannose binding lectin 2
treatment
ISO
DNA:SNPs:promoter,exon: DNA:haplotype:promoter, exon:
RGD
PMID:18336595 PMID:25956563
RGD:14696820 , RGD:11076743
NCBI chr 1:228,016,439...228,024,736
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Mir107
microRNA 107
ISO
RNA:decreased expression:liver:
RGD
PMID:24429361
RGD:14975280
NCBI chr 1:232,337,767...232,337,853
Ensembl chr 1:232,337,767...232,337,853
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Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:24895202
RGD:14401602
NCBI chr18:58,758,703...58,758,787
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Mir146a
microRNA 146a
ISO
miRNA:increased expression:liver (human) miRNA:increased expression:peripheral blood mononuclear cell (mouse)
RGD
PMID:27147737 PMID:25877355
RGD:126925147 , RGD:126925186
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir155
microRNA 155
ISO
miRNA:increased expression:serum associated with rheumatoid arthritis
RGD
PMID:30852102 PMID:29575671
RGD:21079478 , RGD:21403686
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir223
microRNA 223
treatment
ISO
RGD
PMID:28864162
RGD:21408567
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mx1
MX dynamin like GTPase 1
treatment exacerbates
IEP ISO
DNA:SNPs:promoter: (rs2071430, rs17000900) (human) DNA:SNPs:promoter:g.-123C>A, -88G>T(human)
RGD
PMID:28036111 PMID:29271328 PMID:25239021
RGD:40400915 , RGD:126777679 , RGD:11067846
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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Ncr1
natural cytotoxicity triggering receptor 1
treatment disease_progression
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:liver, natural killer cell (human)
RGD
PMID:31218578 PMID:23813131 PMID:16322112 PMID:21695691 PMID:20550548 PMID:25148254 PMID:21168454 More...
RGD:40400920 , RGD:40818297 , RGD:40818296 , RGD:40818295 , RGD:40818079 , RGD:40813739 , RGD:40400738
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Ncr3
natural cytotoxicity triggering receptor 3
disease_progression treatment
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:21168454 PMID:23813131 PMID:16322112 PMID:21695691 PMID:20550548
RGD:40400738 , RGD:40818297 , RGD:40818296 , RGD:40818295 , RGD:40818079
NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
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Nfkb1
nuclear factor kappa B subunit 1
disease_progression
ISO
DNA:insertion:promoter: -94insATTG (rs28362491) (human)
RGD
PMID:26827631
RGD:11572306
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Plau
plasminogen activator, urokinase
ISO
RGD
PMID:19628656
RGD:6483809
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Ppara
peroxisome proliferator activated receptor alpha
ISO IEP
mRNA, protein:decreased expression:liver hepatocytes (human) associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human)
RGD
PMID:15685545 PMID:15685545
RGD:5683635 , RGD:5683635
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Prdx5
peroxiredoxin 5
ISO
mRNA:decreased expression:liver, blood (human)
RGD
PMID:32103340
RGD:41404682
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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Prf1
perforin 1
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25148254
RGD:40813739
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: :HLA DQA1*03(human) DNA:polymorphism:haplotype:
RGD
PMID:8938158 PMID:9537846
RGD:14398842 , RGD:14401559
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
disease_progression
ISO
DNA:polymorphism:cds:HLA-DQB1*02 (human)
RGD
PMID:17489060
RGD:36174022
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
disease_progression
ISO
DNA:polymorphism (human) DNA:polymorphisms:cds:HLA-DRB1*030101, DRB1*0701(human)
RGD
PMID:18925312 PMID:17489060
RGD:5147618 , RGD:36174022
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Ha
RT1 class II, locus Ha
disease_progression
ISO
DNA:SNP, haplotype: :rs3077, rs9277534(human)
RGD
PMID:24897020
RGD:14694819
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ameliorates
ISO
mRNA:increased expression:peripheral blood mononuclear cell(human) DNA:polymorphism: :HLA-DPB1*04:01 (human)
RGD
PMID:27601657 PMID:28332201
RGD:150429796 RGD:150429805
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Slc11a1
solute carrier family 11 member 1
disease_progression
ISO
DNA:polymorphisms, haplotype:promoter (human)
RGD
PMID:14960532
RGD:5684961
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
associated with alexithymia;DNA:haplotypes, multiple:
RGD
PMID:26609890
RGD:11352995
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Smad4
SMAD family member 4
ISO
protein:increased expression:liver:
RGD
PMID:29924446
RGD:21066342
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Spp1
secreted phosphoprotein 1
treatment
ISO
DNA:SNPs:promoter:-443C>T, -1748G>A (human)
RGD
PMID:15868370
RGD:1581374
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Stat3
signal transducer and activator of transcription 3
severity
ISO
RGD
PMID:17318196
RGD:8694293
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tlr3
toll-like receptor 3
treatment severity disease_progression susceptibility
ISO
DNA:SNP:cds:p.Leu412Phe(human) DNA:SNP: :rs13126816 (human) DNA:SNP: :rs3775290(human) treatment:peginterferon plus ribavirin.
RGD
PMID:23240626 PMID:28480979 PMID:23220997 PMID:29860675 PMID:30321082 PMID:19674283 More...
RGD:21079422 , RGD:21079435 , RGD:21079430 , RGD:21079428 , RGD:21079427 , RGD:21079423
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:SNP: :rs2148356(human) protein:increased expression:serum:
RGD
PMID:26095186 PMID:26095186
RGD:14700655 , RGD:14700655
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
severity
ISO
mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) protein:increased expression:liver, peripheral blood mononuclear cell (human)
RGD
PMID:19513613 PMID:23026026
RGD:18337470 , RGD:18337477
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
severity treatment
ISO
protein:increased expression:serum (human) protein:increased expression:plasma (human)
RGD
PMID:9047083 PMID:9440625 PMID:25708446
RGD:14995307 , RGD:14995439 , RGD:38456002
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
treatment
ISO
RGD
PMID:21152182
RGD:8661764
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Usp18
ubiquitin specific peptidase 18
treatment
ISO
RGD
PMID:28036111
RGD:40400915
NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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Vdr
vitamin D receptor
treatment no_association
ISO
DNA:polymorphism: :
RGD
PMID:27263300 PMID:26725771
RGD:14401746 , RGD:14401749
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:missense mutation:cds:p.R194W, p.R280H, p.R399Q (human)
RGD
PMID:29935355
RGD:15036797
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zc3h12a
zinc finger CCCH type containing 12A
severity
ISO
protein:increased expression:liver (human)
RGD
PMID:21739451 PMID:25225661
RGD:39938976 , RGD:39938960
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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Cd209d
CD209d molecule
susceptibility severity
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dengue fever, protection against | ClinVar Annotator: match by term: Dengue virus, susceptibility to DNA:SNP:promoter: -336G>A (human)
CTD OMIM ClinVar RGD
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 PMID:16274635
RGD:39939064
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cxcr2
C-X-C motif chemokine receptor 2
treatment
ISO
RGD
PMID:30098206
RGD:39938828
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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F2
coagulation factor II, thrombin
ISO
RGD
PMID:22138554
RGD:40818430
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fcgr2a
Fc gamma receptor 2A
severity
ISO
DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:26240159
RGD:13463456
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Gc
GC, vitamin D binding protein
ISO
protein:increased expression:plasma
RGD
PMID:19845402
RGD:5509870
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:31821895
RGD:39939074
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ifnl1
interferon, lambda 1
ameliorates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28238051
RGD:126848771
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:30098206
RGD:39938828
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il33
interleukin 33
severity
ISO
RGD
PMID:30098206
RGD:39938828
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Mapk8
mitogen-activated protein kinase 8
ISO
protein:increased phosphorylation:liver (mouse)
RGD
PMID:28188818
RGD:150340680
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mir146a
microRNA 146a
ISO
RNA:decreased expression:serum:
RGD
PMID:26941580
RGD:41404658
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir21
microRNA 21
ISO
RNA:increased expression:serum:
RGD
PMID:26941580
RGD:41404658
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Stat2
signal transducer and activator of transcription 2
susceptibility
ISO
RGD
PMID:21075352 PMID:21379341
RGD:41789625 , RGD:41789629
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Cd1d1
CD1d1 molecule
disease_progression
ISO
protein:increased expression:cd14-positive monocyte (human)
RGD
PMID:24945350
RGD:127345113
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Cd209d
CD209d molecule
severity susceptibility
ISO
DNA:SNPs:introns, promoter:multiple (human) DNA:SNP:promoter: -336 A>G (rs4804803) (human)
RGD
PMID:15838506 PMID:21245921
RGD:39938993 , RGD:41410809
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Clec5a
C-type lectin domain containing 5A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18496526
NCBI chr 4:69,407,125...69,416,872
Ensembl chr 4:69,407,835...69,416,859
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Fcgr2a
Fc gamma receptor 2A
susceptibility
ISO
DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:22817980
RGD:11040906
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Ifnl1
interferon, lambda 1
ameliorates
ISO
DNA:SNP:enhancer:-1043C>T (rs7247086) (human)
RGD
PMID:31981768
RGD:126848742
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Il21
interleukin 21
severity
ISO
protein:increased expression:blood serum (human)
RGD
PMID:24858204
RGD:127285368
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Micb
MHC class I polypeptide-related sequence B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22001756
NCBI chr 1:78,495,779...78,513,030
Ensembl chr 1:78,495,779...78,512,827
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Osbp
oxysterol binding protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:28241052
RGD:41404654
NCBI chr 1:208,888,697...208,918,511
Ensembl chr 1:208,887,895...208,918,506
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Plce1
phospholipase C, epsilon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22001756
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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Slc6a4
solute carrier family 6 member 4
severity
ISO
DNA;polymorphism:5'utr: (rs25531) (human)
RGD
PMID:30452889
RGD:38676265
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:18071882
RGD:6482261
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Prf1
perforin 1
ISO
mRNA:increased expression:brain, spleen
RGD
PMID:21908734
RGD:6482795
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Afp
alpha-fetoprotein
treatment
ISO
RGD
PMID:25914481
RGD:126790581
NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
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Apoa1
apolipoprotein A1
severity
ISO
associated with liver cirrhosis; protein:decreased expression:serum (human)
RGD
PMID:19818291
RGD:25671441
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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C1qc
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35789393
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
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Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human)
RGD
PMID:27304910
RGD:14401735
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr5
C-C motif chemokine receptor 5
no_association susceptibility
ISO
DNA:deletion:cds: ClinVar Annotator: match by term: HCV, RESISTANCE TO CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:25741868 PMID:28492532 PMID:14673528 PMID:27304910 More...
RGD:14401731 , RGD:14401735
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd209d
CD209d molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27385120
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd274
CD274 molecule
ISO
protein:increased expression:dendritic cell
RGD
PMID:20513078
RGD:41410799
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd81
Cd81 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17517063
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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Cxcl10
C-X-C motif chemokine ligand 10
disease_progression treatment
ISO
protein:increased expression:serum
RGD
PMID:18775023 PMID:24668726 PMID:25512630
RGD:27095893 , RGD:27095945 , RGD:27095943
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cyp2b1
cytochrome P450, family 2, subfamily b, polypeptide 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8864187
NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052
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Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8864187
NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008
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F2
coagulation factor II, thrombin
treatment
ISO
RGD
PMID:28129465
RGD:40818432
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:liver
RGD
PMID:17414718
RGD:38456005
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Grap2
GRB2-related adaptor protein 2
severity
ISO
DNA:SNP:intron: (human)
RGD
PMID:15063762
RGD:126790487
NCBI chr 7:112,117,142...112,190,880
Ensembl chr 7:112,117,142...112,190,877
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Hfe
homeostatic iron regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15865084
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Ifnar1
interferon alpha and beta receptor subunit 1
resistance
ISO
RGD
PMID:21756311
RGD:5147491
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Hepatitis C virus infection, response to therapy of CTD Direct Evidence: marker/mechanism protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
ClinVar CTD OMIM RGD
PMID:17215375 PMID:17553896
RGD:40400745
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ifnl1
interferon, lambda 1
ISO
DNA:missense mutation, haplotype:exon (rs30461) (human)
RGD
PMID:24269996
RGD:126848746
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Ifnl3
interferon, lambda 3
treatment disease_progression
ISO
associated with inherited blood coagulation disease;DNA:SNP:enhancer: (rs12979860) (human) CTD Direct Evidence: marker/mechanism associated with Beta-Thalassemia;DNA:SNPs:enhancers: (rs12979860, rs4803221, rs8099917) (human)
CTD OMIM RGD
PMID:24522196 PMID:25864220
RGD:11528544 , RGD:11528545
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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Il10
interleukin 10
no_association
ISO
protein:increased expression:serum DNA:SNPs: :multiple DNA:SNPs: :rs1800896 (human)
RGD
PMID:19302182 PMID:28340949 PMID:28340949
RGD:2308942 , RGD:14975144 , RGD:14975144
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12a
interleukin 12A
susceptibility disease_progression
ISO
DNA:SNP:3'UTR: rs568408( G>A)(human) associated with diabetes mellitus;
RGD
PMID:27819525 PMID:30243010
RGD:25440490 , RGD:25440502
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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Il13
interleukin 13
disease_progression
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896 PMID:17553896
RGD:40400745 , RGD:40400745
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il18
interleukin 18
disease_progression susceptibility treatment
ISO
DNA:SNPs:promoter:-607C>A, -137G>C(human) DNA:SNP:promoter:-607C>A (rs1946518)(human) protein:increased expression:serum: DNA:SNPs:promoter:-137G>C,-607C>A(human)
RGD
PMID:18781864 PMID:21984735 PMID:26486291 PMID:27927859 PMID:19455410
RGD:14695527 , RGD:14696657 , RGD:14696654 , RGD:14696653 , RGD:14695530
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
associated with Glomerulonephritis; protein:increased expression:serum (human)
RGD
PMID:21623661
RGD:7175316
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896
RGD:40400745
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-589C>T (human) protein:decreased expression:serum
RGD
PMID:28368861 PMID:28368861
RGD:14696680 , RGD:14696680
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
no_association
ISO
DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human) DNA:SNPs: :multiple
RGD
PMID:28340949 PMID:28340949
RGD:14975144 , RGD:14975144
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf5
interferon regulatory factor 5
treatment
ISO
mRNA:increased expression:liver
RGD
PMID:27942586 PMID:28259968
RGD:40924562 , RGD:40924642
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Irf9
interferon regulatory factor 9
ISO
protein:increased expression:liver
RGD
PMID:26216956
RGD:11074283
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
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Itpa
inosine triphosphatase
disease_progression
ISO
DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
RGD
PMID:24519039
RGD:10766473
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
susceptibility
ISO
DNA:deletion:cds
RGD
PMID:28225833
RGD:38676472
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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Klrc1
killer cell lectin like receptor C1
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer c
RGD
PMID:17553896
RGD:40400745
NCBI chr 4:163,142,142...163,152,425
Ensembl chr 4:163,147,189...163,152,425
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Klrk1
killer cell lectin like receptor K1
disease_progression
ISO
mRNA:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) associated with HIV Seropositivity;protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:26518141 PMID:27091211 PMID:27091211
RGD:11553576 , RGD:40818300 , RGD:40818300
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Krt8
keratin 8
ISO
ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to
ClinVar
PMID:11372009 PMID:15090596 PMID:15235035 PMID:25741868 PMID:28492532 PMID:33116287 More...
NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
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Ldlr
low density lipoprotein receptor
disease_progression
ISO
DNA:polymorphisms:exon, 3' utr (human)
RGD
PMID:12209363
RGD:5490246
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
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Lpl
lipoprotein lipase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17517063
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:exon: DNA:SNPs, haplotype:promoter, exon:
RGD
PMID:19703233 PMID:20570631
RGD:14696815 , RGD:14696832
NCBI chr 1:228,016,439...228,024,736
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Mir146a
microRNA 146a
exacerbates
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:28587864
RGD:126925170
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir181c
microRNA 181c
IEP
miRNA:decreased expression:liver (human)
RGD
PMID:24789793
RGD:15042895
NCBI chr19:23,983,523...23,983,628
Ensembl chr19:23,983,523...23,983,628
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Mir21
microRNA 21
disease_progression
ISO
RNA:increased expression:liver
RGD
PMID:30938910 PMID:20625373
RGD:41404662 , RGD:41404667
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:23157389
RGD:126925755
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
mRNA,protein:increased expression:liver
RGD
PMID:23108410
RGD:14695017
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Ncr1
natural cytotoxicity triggering receptor 1
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896
RGD:40400745
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Ncr3
natural cytotoxicity triggering receptor 3
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896
RGD:40400745
NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
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Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
DNA:deletion:promoter: (rs28362491) (human)
RGD
PMID:30056167
RGD:40902826
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12937158 PMID:17299060
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdcd1
programmed cell death 1
disease_progression
ISO
DNA:SNP:3' UTR:rs10204525(human)
RGD
PMID:25747035
RGD:11052797
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Ppia
peptidylprolyl isomerase A
ameliorates
ISO
RGD
PMID:23903655
RGD:150429630
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Ptx3
pentraxin 3
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26400151
RGD:11554449
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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Rig1
RNA sensor RIG-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20170495
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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RT1-Ba
RT1 class II, locus Ba
disease_progression
ISO
associated with thalassemia;DNA:polymorphism, haplotype: :
RGD
PMID:29248968 PMID:25970464
RGD:14398753 , RGD:14401560
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility disease_progression
ISO
associated with Beta-Thalassemia DNA:polymorphism:cds:HLA-DQB1*03, *0501 (human)
RGD
PMID:21535077 PMID:22155912 PMID:27599887 PMID:27340680
RGD:40902997 , RGD:11041750 , RGD:14928327 , RGD:14928326
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*11 (human)
RGD
PMID:21535077
RGD:40902997
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-M3-1
RT1 class Ib, locus M3, gene 1
ISO
RGD
PMID:19775370
RGD:5144114
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human)
RGD
PMID:24317272
RGD:149735572
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Scarb1
scavenger receptor class B, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17517063
NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased expression:liver
RGD
PMID:26216956
RGD:11074283
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat2
signal transducer and activator of transcription 2
ISO
protein:increased expression:liver
RGD
PMID:26216956
RGD:11074283
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:24634940
RGD:14696782
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tlr3
toll-like receptor 3
disease_progression severity susceptibility
ISO
associated with glomerulonephritis;mRNA:increased expression:liver: DNA:SNPs: :rs3775290,rs3775291,rs5743312 (human) associated with liver transplant;DNP:SNP:cds:p.Leu412Phe(human) DNA:SNP:cds:p.Leu412Phe(human)
RGD
PMID:21623661 PMID:29947302 PMID:27101936 PMID:23240626
RGD:7175316 , RGD:21079437 , RGD:21079429 , RGD:21079422
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr7
toll-like receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27385120
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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Tlr8
toll-like receptor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27385120
NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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Tlr9
toll-like receptor 9
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human) associated with psoriasis;mRNA:increased expession:skin (human)
RGD
PMID:28062211 PMID:27184185
RGD:18337466 , RGD:18337479
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Trem1
triggering receptor expressed on myeloid cells 1
ISO
protein:increased expression:plasma
RGD
PMID:27328755
RGD:126925974
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
ISO
RGD
PMID:17010311
RGD:18337278
NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
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Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:32265853
RGD:127229907
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Ifih1
interferon induced with helicase C domain 1
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Lcn2
lipocalin 2
ISO
mRNA,protein:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Rig1
RNA sensor RIG-1
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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Rnasel
ribonuclease L
disease_progression
ISO
RGD
PMID:16809306
RGD:40902815
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31415679
RGD:39128224
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Tlr3
toll-like receptor 3
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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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:25741868 PMID:28492532 More...
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Irf5
interferon regulatory factor 5
disease_progression
ISO
RGD
PMID:25031348
RGD:40924561
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Mavs
mitochondrial antiviral signaling protein
severity
ISO
RGD
PMID:28094802
RGD:40903045
NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
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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 chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:19790244
RGD:5508797
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Stat2
signal transducer and activator of transcription 2
susceptibility
ISO
RGD
PMID:31043530
RGD:41789622
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Atf4
activating transcription factor 4
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
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Atg16l1
autophagy related 16-like 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28694387
NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
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Ddit3
DNA-damage inducible transcript 3
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Edem1
ER degradation enhancing alpha-mannosidase like protein 1
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr 4:141,797,631...141,829,717
Ensembl chr 4:141,797,701...141,829,717
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Ern1
endoplasmic reticulum to nucleus signaling 1
ISO
RGD
PMID:30241539
RGD:32733625
NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
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Hspa5
heat shock protein family A (Hsp70) member 5
ISO
mRNA,protein:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Ppp1r15a
protein phosphatase 1, regulatory subunit 15A
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr 1:96,000,053...96,003,128
Ensembl chr 1:96,000,058...96,003,171
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Stat2
signal transducer and activator of transcription 2
susceptibility
ISO
human gene in a mouse model
RGD
PMID:29746837 PMID:28278235
RGD:41789627 , RGD:41789631
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Xbp1
X-box binding protein 1
ISO
protein:increased expression:cerebellum, mesocephalon
RGD
PMID:30241539
RGD:32733625
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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