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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
 primary_id: MESH:D018178;   RDO:0005785
For additional species annotation, visit the Alliance of Genome Resources.


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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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:27765085 RGD:25671376 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 susceptibility
treatment
disease_progression
ISO DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human)
DNA:SNP:cds:c.1331T>C (rs2287622)(human)
RGD PMID:29755014, PMID:29091211, PMID:22681771 RGD:14402415, RGD:14402417, RGD:14402416 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ace angiotensin I converting enzyme treatment ISO
IEP
protein:decreased expression:serum (human) RGD PMID:29641775, PMID:17106926, PMID:27147779 RGD:25671451, RGD:40400711, RGD:25671456 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adar adenosine deaminase, RNA-specific no_association
disease_progression
treatment
ISO DNA:SNP:exon: (rs1127309) (human)
associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human)
DNA:silent mutation:CDS:p.V849V (rs1127309) (human)
DNA:snps, haplotype: (rs7515339, rs903323) (human)
RGD PMID:26911666, PMID:29906476, PMID:19434718, PMID:17979507 RGD:11554370, RGD:125097514, RGD:125097513, RGD:38599150 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:26293833 RGD:14401718 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Ang angiogenin ISO RGD PMID:21848603 RGD:6892709 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Apoe apolipoprotein E severity ISO DNA:polymorphism:exon: RGD PMID:12143056 RGD:7495764 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aurka aurora kinase A ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RNA:increased expression:liver: RGD PMID:24429361 RGD:14975280 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 severity
treatment
disease_progression
ISO DNA:polymorphism:promoter:-403G>A(human)
DNA:SNPs,haplotype: :
mRNA:increased expression:liver:
DNA:SNP: :rs3817656(human)
RGD PMID:12557141, PMID:15368437, PMID:15770052, PMID:29703961 RGD:14995332, RGD:14995340, RGD:14995336, RGD:14995334 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd209 CD209 molecule ISO DNA:SNPs,haplotypes:promoter: -939G>A, -871A>G (human) RGD PMID:27348632 RGD:39939007 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd226 CD226 molecule treatment ISO RGD PMID:21695691 RGD:40818295 NCBI chr18:86,299,392...86,394,772
Ensembl chr18:86,299,463...86,394,765
JBrowse link
G Cd274 CD274 molecule ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:18086898 RGD:41410796 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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 chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
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 chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO mRNA, protein:decreased expression:liver hepatocytes (human) RGD PMID:15685545 RGD:5683635 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Crp C-reactive protein ISO RGD PMID:22333691 RGD:6482311 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:31127759 RGD:27095949 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO protein:increased expression:serum: RGD PMID:10435724 RGD:11353781 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Foxp3 forkhead box P3 ISO RGD PMID:18673437 RGD:38548921 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 severity ISO RGD PMID:10934805 RGD:14747019 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:17397002 RGD:14700966 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:17397002 RGD:14700966 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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 chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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, PMID:17881538, PMID:9310930 RGD:40886308, RGD:40886318, RGD:40886316, RGD:40886314, RGD:40886313, RGD:40886311, RGD:40886310 NCBI chr 5:107,416,117...107,416,695
Ensembl chr 5:107,416,117...107,416,695
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 1:85,252,103...85,253,635
Ensembl chr 1:85,252,103...85,253,635
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, PMID:24376784, PMID:27027531, PMID:25283962, PMID:28739427, PMID:25788203, PMID:28638221, PMID:21615377 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 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
JBrowse link
G Igf2 insulin-like growth factor 2 severity ISO DNA:SNPs, haplotype:multiple RGD PMID:16750516 RGD:14401723 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il10 interleukin 10 treatment
no_association
susceptibility
ISO protein:increased expression:serum:
DNA:SNP:promoter: rs3021094, rs3024498 (human)
DNA:SNP:promoter:-592C>A (rs1800872) (human)
DNA:polymorphism:promoter:
RGD PMID:26095186, PMID:25708446, PMID:29247709, PMID:29247709, PMID:26095186 RGD:14700655, RGD:38456002, RGD:14975141, RGD:14975141, RGD:14700655 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12b interleukin 12B severity ISO DNA:SNP:3' utr:+1188A>C (human) RGD PMID:15871664 RGD:14401721 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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 chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:12673448 RGD:14807336 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il27 interleukin 27 ameliorates ISO DNA:SNP:promoter:-964A>G (rs153109) (human) RGD PMID:27221901 RGD:126790538 NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
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:25708446, PMID:23591975 RGD:14696678, RGD:38456002, RGD:14696686 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 treatment ISO DNA:SNPs:promoter:rs1800795 (human) RGD PMID:27812403 RGD:14975294 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Isg15 ISG15 ubiquitin-like modifier treatment ISO RGD PMID:28036111 RGD:40400915 NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
JBrowse link
G Itgb6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18221819 NCBI chr 3:46,652,624...46,775,362
Ensembl chr 3:46,652,623...46,726,958
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 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
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 4:163,453,435...163,463,718
Ensembl chr 4:163,458,528...163,463,718
JBrowse link
G Klrk1 killer cell lectin like receptor K1 treatment
disease_progression
ISO protein:decreased expression:liver,natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD PMID:25965701, PMID:25148254, PMID:21168454 RGD:39018562, RGD:40813739, RGD:40400738 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Krt18 keratin 18 disease_progression
severity
ISO protein:increased expression:serum (human)
protein:increased expression:liver, serum (human)
protein:increased degradation:serum (human)
RGD PMID:30839434, PMID:23820504, PMID:22404726, PMID:19333204 RGD:18337481, RGD:18337500, RGD:18337496, RGD:18337493 NCBI chr 7:143,629,455...143,633,131
Ensembl chr 7:143,629,455...143,633,131
JBrowse link
G Krt8 keratin 8 ISO protein:increased phosphorylation:liver (human) RGD PMID:15368451 RGD:14401583 NCBI chr 7:143,596,511...143,603,745
Ensembl chr 7:143,596,511...143,603,803
JBrowse link
G Lep leptin IEP protein:altered localization:serum (human) RGD PMID:11336170 RGD:21201249 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO mRNA:altered exression:PBMC,liver RGD PMID:17060687 RGD:21079470 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lgals3 galectin 3 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mir107 microRNA 107 ISO RNA:decreased expression:liver: RGD PMID:24429361 RGD:14975280 NCBI chr 1:253,128,250...253,128,336
Ensembl chr 1:253,128,250...253,128,336
JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:24895202 RGD:14401602 NCBI chr18:60,755,285...60,755,369 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 chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
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 chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir223 microRNA 223 treatment ISO RGD PMID:28864162 RGD:21408567 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mx1 MX dynamin like GTPase 1 treatment
exacerbates
IEP
ISO
DNA:SNPs:promoter:g.-123C>A, -88G>T(human)
DNA:SNPs:promoter: (rs2071430, rs17000900) (human)
RGD PMID:28036111, PMID:25239021, PMID:29271328 RGD:40400915, RGD:11067846, RGD:126777679 NCBI chr11:37,891,150...37,916,775
Ensembl chr11:37,891,156...37,914,983
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, PMID:25148254, PMID:21168454 RGD:40400920, RGD:40818297, RGD:40818296, RGD:40818295, RGD:40818079, RGD:40813739, RGD:40400738 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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 chr20:5,170,169...5,175,773
Ensembl chr20:5,170,215...5,175,773
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 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:19628656 RGD:6483809 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Prdx5 peroxiredoxin 5 ISO mRNA:decreased expression:liver, blood (human) RGD PMID:32103340 RGD:41404682 NCBI chr 1:222,164,462...222,167,447
Ensembl chr 1:222,164,462...222,167,447
JBrowse link
G Prf1 perforin 1 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25148254 RGD:40813739 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
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 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Slc6a4 solute carrier family 6 member 4 susceptibility ISO associated with alexithymia;DNA:haplotypes, multiple: RGD PMID:26609890 RGD:11352995 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
G Smad4 SMAD family member 4 ISO protein:increased expression:liver: RGD PMID:29924446 RGD:21066342 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Spp1 secreted phosphoprotein 1 treatment ISO DNA:SNPs:promoter:-443C>T, -1748G>A (human) RGD PMID:15868370 RGD:1581374 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Stat3 signal transducer and activator of transcription 3 severity ISO RGD PMID:17318196 RGD:8694293 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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, PMID:19674283 RGD:21079422, RGD:21079435, RGD:21079430, RGD:21079428, RGD:21079427, RGD:21079423 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor treatment
severity
ISO protein:increased expression:serum (human)
protein:increased expression:plasma (human)
RGD PMID:9047083, PMID:25708446, PMID:9440625 RGD:14995307, RGD:38456002, RGD:14995439 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO RGD PMID:21152182 RGD:8661764 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Usp18 ubiquitin specific peptidase 18 treatment ISO RGD PMID:28036111 RGD:40400915 NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
G Vdr vitamin D receptor treatment
no_association
ISO DNA:polymorphism: : RGD PMID:27263300, PMID:26725771 RGD:14401746, RGD:14401749 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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 5:143,111,342...143,120,131
Ensembl chr 5:143,111,074...143,120,165
JBrowse link
dengue disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd209 CD209 molecule severity ISO DNA:SNP:promoter: -336G>A (human)
ClinVar Annotator: match by term: Dengue fever, protection against
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15564514 PMID:15838506 PMID:16379498, PMID:16274635 RGD:39939064 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 treatment ISO RGD PMID:30098206 RGD:39938828 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G F2 coagulation factor II ISO RGD PMID:22138554 RGD:40818430 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa severity ISO DNA:polymorphism:cds:p.H131R(human) RGD PMID:26240159 RGD:13463456 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:plasma RGD PMID:19845402 RGD:5509870 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:31821895 RGD:39939074 NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
JBrowse link
G Ifnl1 interferon, lambda 1 ameliorates ISO protein:increased expression:blood serum (human) RGD PMID:28238051 RGD:126848771 NCBI chr 1:85,252,103...85,253,635
Ensembl chr 1:85,252,103...85,253,635
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 treatment ISO RGD PMID:30098206 RGD:39938828 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il33 interleukin 33 severity ISO RGD PMID:30098206 RGD:39938828 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Mir146a microRNA 146a ISO RNA:decreased expression:serum: RGD PMID:26941580 RGD:41404658 NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:serum: RGD PMID:26941580 RGD:41404658 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Stat2 signal transducer and activator of transcription 2 susceptibility ISO RGD PMID:21075352, PMID:21379341 RGD:41789625, RGD:41789629 NCBI chr 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
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 2:186,330,298...186,333,805
Ensembl chr 2:186,330,298...186,333,805
JBrowse link
G Cd209 CD209 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 chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Clec5a C-type lectin domain containing 5A ISO CTD Direct Evidence: therapeutic CTD PMID:18496526 NCBI chr 4:68,810,330...68,819,921
Ensembl chr 4:68,808,359...68,819,928
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO DNA:polymorphism:cds:p.H131R(human) RGD PMID:22817980 RGD:11040906 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Ifnl1 interferon, lambda 1 ameliorates ISO DNA:SNP:enhancer:-1043C>T (rs7247086) (human) RGD PMID:31981768 RGD:126848742 NCBI chr 1:85,252,103...85,253,635
Ensembl chr 1:85,252,103...85,253,635
JBrowse link
G Il21 interleukin 21 severity ISO protein:increased expression:blood serum (human) RGD PMID:24858204 RGD:127285368 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Micb MHC class I polypeptide-related sequence B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22001756 NCBI chr 1:79,754,587...79,772,092
Ensembl chr 1:79,754,587...79,772,092
JBrowse link
G Osbp oxysterol binding protein ISO mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:28241052 RGD:41404654 NCBI chr 1:228,395,237...228,425,366
Ensembl chr 1:228,395,558...228,425,361
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22001756 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
JBrowse link
G Slc6a4 solute carrier family 6 member 4 severity ISO DNA;polymorphism:5'utr: (rs25531) (human) RGD PMID:30452889 RGD:38676265 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:18071882 RGD:6482261 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
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 chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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 chr14:19,141,755...19,159,919
Ensembl chr14:19,141,755...19,159,923
JBrowse link
G Apoa1 apolipoprotein A1 severity ISO associated with liver cirrhosis; protein:decreased expression:serum (human) RGD PMID:19818291 RGD:25671441 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 susceptibility
no_association
ISO ClinVar Annotator: match by term: HCV, RESISTANCE TO
DNA:deletion:cds:
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:28492532, PMID:27304910, PMID:14673528 RGD:14401735, RGD:14401731 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd209 CD209 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd274 CD274 molecule ISO protein:increased expression:dendritic cell RGD PMID:20513078 RGD:41410799 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
JBrowse link
G Cd81 Cd81 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517063 NCBI chr 1:216,237,663...216,253,460
Ensembl chr 1:216,237,697...216,253,311
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 chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8864187 NCBI chr 7:99,142,431...99,183,540
Ensembl chr 7:99,142,450...99,181,783
JBrowse link
G Ddx58 DEXD/H-box helicase 58 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170495 NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:28129465 RGD:40818432 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17414718 RGD:38456005 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Grap2 GRB2-related adaptor protein 2 severity ISO DNA:SNP:intron: (human) RGD PMID:15063762 RGD:126790487 NCBI chr 7:121,791,330...121,864,835
Ensembl chr 7:121,841,855...121,864,679
JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15865084 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 resistance ISO RGD PMID:21756311 RGD:5147491 NCBI chr11:31,640,407...31,666,839
Ensembl chr11:31,640,407...31,664,061
JBrowse link
G Ifng interferon gamma susceptibility ISO ClinVar Annotator: match by synonym: Hepatitis C virus infection, response to therapy of
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:17215375, PMID:17553896 RGD:40400745 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ifnl1 interferon, lambda 1 ISO DNA:missense mutation, haplotype:exon (rs30461) (human) RGD PMID:24269996 RGD:126848746 NCBI chr 1:85,252,103...85,253,635
Ensembl chr 1:85,252,103...85,253,635
JBrowse link
G Ifnl3 interferon, lambda 3 treatment
susceptibility
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
PMID:24522196, PMID:25864220 RGD:11528544, RGD:11528545 NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
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 chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO associated with Glomerulonephritis; protein:increased expression:serum (human) RGD PMID:21623661 RGD:7175316 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Irf9 interferon regulatory factor 9 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr15:34,282,936...34,288,981
Ensembl chr15:34,282,936...34,288,138
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 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
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 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
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 4:163,453,435...163,463,718
Ensembl chr 4:163,458,528...163,463,718
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 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Krt8 keratin 8 ISO ClinVar Annotator: match by term: Hepatitis c virus, susceptibility to
ClinVar Annotator: match by term: Susceptibility to hepatitis C virus
ClinVar PMID:11372009 PMID:15090596 PMID:25741868 PMID:28492532 NCBI chr 7:143,596,511...143,603,745
Ensembl chr 7:143,596,511...143,603,803
JBrowse link
G Ldlr low density lipoprotein receptor disease_progression ISO DNA:polymorphisms:exon, 3' utr (human) RGD PMID:12209363 RGD:5490246 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr15:51,276,022...51,365,238
Ensembl chr15:51,303,909...51,365,234
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: therapeutic CTD PMID:17517063 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mir146a microRNA 146a exacerbates ISO miRNA:increased expression:blood serum (human) RGD PMID:28587864 RGD:126925170 NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
JBrowse link
G Mir181c microRNA 181c IEP miRNA:decreased expression:liver (human) RGD PMID:24789793 RGD:15042895 NCBI chr19:25,290,211...25,290,316
Ensembl chr19:25,290,211...25,290,316
JBrowse link
G Mir21 microRNA 21 disease_progression ISO RNA:increased expression:liver RGD PMID:30938910, PMID:20625373 RGD:41404662, RGD:41404667 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO mRNA:decreased expression:liver (human) RGD PMID:23157389 RGD:126925755 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA,protein:increased expression:liver RGD PMID:23108410 RGD:14695017 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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 chr20:5,170,169...5,175,773
Ensembl chr20:5,170,215...5,175,773
JBrowse link
G Nfkbia NFKB inhibitor alpha susceptibility ISO DNA:deletion:promoter: (rs28362491) (human) RGD PMID:30056167 RGD:40902826 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12937158 PMID:17299060 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Pdcd1 programmed cell death 1 disease_progression ISO DNA:SNP:3' UTR:rs10204525(human) RGD PMID:25747035 RGD:11052797 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C susceptibility ISO ClinVar Annotator: match by OMIM:609532
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7621884 PMID:11101853 PMID:11528386 PMID:11548742 PMID:11841494 PMID:12373647 PMID:15372250 PMID:16505159 PMID:19111528 PMID:21507955 NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
JBrowse link
G Ptx3 pentraxin 3 severity ISO protein:increased expression:plasma (human) RGD PMID:26400151 RGD:11554449 NCBI chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 ISO RGD PMID:19775370 RGD:5144114 NCBI chr20:1,814,661...1,833,033
Ensembl chr20:1,814,661...1,818,800
JBrowse link
G Scarb1 scavenger receptor class B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517063 NCBI chr12:36,694,952...36,761,445
Ensembl chr12:36,694,960...36,761,455
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat2 signal transducer and activator of transcription 2 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:24634940 RGD:14696782 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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 chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr7 toll-like receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr8 toll-like receptor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
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 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO protein:increased expression:plasma RGD PMID:27328755 RGD:126925974 NCBI chr 9:14,727,887...14,743,371
Ensembl chr 9:14,727,976...14,809,447
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 5:156,876,706...156,878,486
Ensembl chr 5:156,876,706...156,878,486
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ameliorates ISO RGD PMID:32265853 RGD:127229907 NCBI chr15:34,470,796...34,479,741
Ensembl chr15:34,470,796...34,479,741
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 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16463218 RGD:11352252 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
West Nile encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx58 DEXD/H-box helicase 58 ISO mRNA:increased expression:brain RGD PMID:24173226 RGD:126781836 NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO mRNA:increased expression:brain RGD PMID:24173226 RGD:126781836 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Lcn2 lipocalin 2 ISO mRNA,protein:increased expression:brain RGD PMID:24173226 RGD:126781836 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Rnasel ribonuclease L disease_progression ISO RGD PMID:16809306 RGD:40902815 NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 severity ISO RGD PMID:31415679 RGD:39128224 NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA:increased expression:brain RGD PMID:24173226 RGD:126781836 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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 ClinVar Annotator: match by term: West nile virus, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:28492532 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Irf5 interferon regulatory factor 5 disease_progression ISO RGD PMID:25031348 RGD:40924561 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Mavs mitochondrial antiviral signaling protein severity ISO RGD PMID:28094802 RGD:40903045 NCBI chr 3:123,776,147...123,790,572
Ensembl chr 3:123,776,181...123,790,567
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 chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:19790244 RGD:5508797 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
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 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772
JBrowse link
G Atg16l1 autophagy related 16-like 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28694387 NCBI chr 9:94,879,876...94,915,231
Ensembl chr 9:94,879,745...94,915,228
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO mRNA:increased expression:brain RGD PMID:30241539 RGD:32733625 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Edem1 ER degradation enhancing alpha-mannosidase like protein 1 ISO mRNA:increased expression:brain RGD PMID:30241539 RGD:32733625 NCBI chr 4:140,886,644...140,918,654
Ensembl chr 4:140,886,545...140,915,779
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO RGD PMID:30241539 RGD:32733625 NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
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 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A ISO mRNA:increased expression:brain RGD PMID:30241539 RGD:32733625 NCBI chr 1:101,511,899...101,515,043
Ensembl chr 1:101,511,901...101,514,974
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 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
JBrowse link
G Xbp1 X-box binding protein 1 ISO protein:increased expression:cerebellum, mesocephalon RGD PMID:30241539 RGD:32733625 NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease by infectious agent 1909
      viral infectious disease 1563
        RNA Virus Infections 1349
          Flaviviridae Infections 156
            Flavivirus Infections + 44
            Pestivirus Infections + 0
            hepatitis C + 126
paths to the root