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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
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Accession:DOID:9008551 term browser 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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Flaviviridae Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
Chronic Hepatitis C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ang angiogenin ISO RGD PMID:21848603 RGD:6892709 NCBI chr15:24,312,711...24,323,361 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ifna2 interferon alpha 2 treatment ISO associated with end stage renal disease RGD PMID:9187562 PMID:7493300 PMID:19152412 PMID:21272456 PMID:8868074 More... RGD:40886308, RGD:40886318, RGD:40886316, RGD:40886314, RGD:40886313, RGD:40886311, RGD:40886310 NCBI chr 5:103,258,617...103,259,195 JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:24895202 RGD:14401602 NCBI chr18:58,758,703...58,758,787 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
dengue disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
dengue hemorrhagic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Flavivirus Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
hepatitis C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... RGD:14401731, RGD:14401735 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Japanese encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
tick-borne encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
West Nile encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
West Nile fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
yellow fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Zika fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease by infectious agent 2250
      viral infectious disease 1714
        RNA Virus Infections 1399
          Flaviviridae Infections 163
            Flavivirus Infections + 45
            Pestivirus Infections + 0
            hepatitis C + 132
paths to the root