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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:Chronic Hepatitis C
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Accession:DOID:9004017 term browser browse the term
Definition:INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS.
Synonyms:primary_id: MESH:D019698
 xref: EFO:0004220

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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 chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619 		JBrowse link
G Abcb1 ATP binding cassette subfamily B member 1 treatment
susceptibility		 ISO DNA:SNP: :3435C>T(human)
DNA:SNP::2677G>T/A(rs2032582)(human)		 RGD PMID:26922556 PMID:29155127 RGD:11574565 RGD:14700907 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 disease_progression
treatment
susceptibility		 ISO DNA:SNP:cds:c.1331T>C (rs2287622)(human)
DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human)		 RGD PMID:22681771 PMID:29091211 PMID:29755014 RGD:14402415 RGD:14402416 RGD:14402417 NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701 		JBrowse link
G Adar adenosine deaminase RNA specific treatment
disease_progression
no_association		 ISO 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)
DNA:snps, haplotype: (rs7515339, rs903323) (human)
DNA:SNP:exon: (rs1127309) (human)		 RGD PMID:17979507 PMID:19434718 PMID:26911666 PMID:29906476 RGD:11554370 RGD:125097513 RGD:125097514 RGD:38599150 NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:26293833 RGD:14401718 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		JBrowse link
G Apoe apolipoprotein E severity ISO DNA:polymorphism:exon: RGD PMID:12143056 RGD:7495764 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Aurka aurora kinase A ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chrNW_004955445:2,831,073...2,853,151
Ensembl chrNW_004955445:2,831,157...2,853,357 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 disease_progression
severity
treatment		 ISO DNA:SNP: :rs3817656(human)
DNA:polymorphism:promoter:-403G>A(human)
mRNA:increased expression:liver:
DNA:SNPs,haplotype: :		 RGD PMID:12557141 PMID:15368437 PMID:15770052 PMID:29703961 RGD:14995332 RGD:14995334 RGD:14995336 RGD:14995340 NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143 		JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300 		JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430 		JBrowse link
G Cd226 CD226 molecule treatment ISO RGD PMID:21695691 RGD:40818295 NCBI chrNW_004955402:53,408,861...53,560,896
Ensembl chrNW_004955402:53,473,131...53,560,924 		JBrowse link
G Cd274 CD274 molecule ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:18086898 RGD:41410796 NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904 		JBrowse link
G Cldn1 claudin 1 susceptibility ISO mRNA:decreased expression:liver (human)
associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations		 RGD PMID:19674288 PMID:21412800 RGD:25330352 RGD:26884350 NCBI chrNW_004955420:17,798,974...17,815,049
Ensembl chrNW_004955420:17,798,974...17,815,205 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO mRNA, protein:decreased expression:liver hepatocytes RGD PMID:15685545 RGD:5683635 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838 		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 chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:31127759 RGD:27095949 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927 		JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 treatment ISO RGD PMID:21554996 RGD:150521553 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643 		JBrowse link
G Foxp3 forkhead box P3 ISO RGD PMID:18673437 RGD:38548921 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 severity ISO RGD PMID:10934805 RGD:14747019 NCBI chrNW_004955455:8,082,578...8,099,523 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chrNW_004955474:8,248,622...8,285,449
Ensembl chrNW_004955474:8,250,759...8,285,227 		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 chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829 		JBrowse link
G Igf2 insulin like growth factor 2 severity ISO DNA:SNPs, haplotype:multiple RGD PMID:16750516 RGD:14401723 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G Il10 interleukin 10 susceptibility
treatment
no_association		 ISO DNA:polymorphism:promoter:
DNA:SNP:promoter:-592C>A (rs1800872) (human)
protein:increased expression:serum:
DNA:SNP:promoter: rs3021094, rs3024498 (human)		 RGD PMID:25708446 PMID:26095186 PMID:29247709 RGD:14700655 RGD:14975141 RGD:38456002 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
G Il12b interleukin 12B severity ISO DNA:SNP:3' utr:+1188A>C (human) RGD PMID:15871664 RGD:14401721 NCBI chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620 		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 chrNW_004955497:1,499,700...1,506,557 JBrowse link
G Il18 interleukin 18 disease_progression
treatment		 ISO DNA:SNP:promoter:-607C>A (rs1946518)(human) RGD PMID:19740312 PMID:25198668 RGD:14696651 RGD:14696656 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634 		JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:12673448 RGD:14807336 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265 		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 chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492 		JBrowse link
G Il27 interleukin 27 ameliorates ISO DNA:SNP:promoter:-964A>G (rs153109) (human) RGD PMID:27221901 RGD:126790538 NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417 		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 chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Il6 interleukin 6 treatment ISO DNA:SNPs:promoter:rs1800795 (human) RGD PMID:27812403 RGD:14975294 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Isg15 ISG15 ubiquitin like modifier treatment ISO RGD PMID:28036111 RGD:40400915 NCBI chrNW_004955486:9,706,878...9,707,876
Ensembl chrNW_004955486:9,706,703...9,707,949 		JBrowse link
G Itgb6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18221819 NCBI chrNW_004955449:13,387,013...13,520,879
Ensembl chrNW_004955449:13,448,084...13,520,879 		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:19333204 PMID:22404726 PMID:23820504 PMID:30839434 RGD:18337481 RGD:18337493 RGD:18337496 RGD:18337500 NCBI chrNW_004955458:227,017...230,752
Ensembl chrNW_004955458:226,805...232,728 		JBrowse link
G Krt8 keratin 8 ISO protein:increased phosphorylation:liver (human) RGD PMID:15368451 RGD:14401583 NCBI chrNW_004955458:178,954...190,310 JBrowse link
G Lep leptin ISO protein:altered localization:serum (human) RGD PMID:11336170 RGD:21201249 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472 		JBrowse link
G Lepr leptin receptor ISO mRNA:altered expression:liver, peripheral blood mononuclear cell RGD PMID:17060687 RGD:21079470 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407 		JBrowse link
G Lgals3 galectin 3 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chrNW_004955409:8,448,120...8,452,437
Ensembl chrNW_004955409:8,447,774...8,452,438 		JBrowse link
G LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial severity ISO DNA:polymorphism:promoter: 1260C>A (rs10877012) (human) RGD PMID:21145801 RGD:25671413 NCBI chrNW_004955458:5,472,404...5,477,001
Ensembl chrNW_004955458:5,472,404...5,477,001 		JBrowse link
G LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain disease_progression ISO DNA:SNP, haplotype: :rs3077, rs9277534(human) RGD PMID:24897020 RGD:14694819 NCBI chrNW_004955437:1,644,037...1,657,094
Ensembl chrNW_004955437:1,643,238...1,651,071 		JBrowse link
G LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain 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 chrNW_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042 		JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO DNA:haplotype:promoter, exon:
DNA:SNPs:promoter,exon:		 RGD PMID:18336595 PMID:25956563 RGD:11076743 RGD:14696820 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006 		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:16322112 PMID:20550548 PMID:21168454 PMID:21695691 PMID:23813131 RGD:40400738 RGD:40818079 RGD:40818295 RGD:40818296 RGD:40818297 NCBI chrNW_004955437:130,360...134,751 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 chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:19628656 RGD:6483809 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human)
mRNA, protein:decreased expression:liver hepatocytes		 RGD PMID:15685545 RGD:5683635 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500 		JBrowse link
G Prdx5 peroxiredoxin 5 ISO mRNA:decreased expression:liver, blood (human) RGD PMID:32103340 RGD:41404682 NCBI chrNW_004955422:20,763,822...20,766,976
Ensembl chrNW_004955422:20,761,495...20,766,976 		JBrowse link
G Prf1 perforin 1 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25148254 RGD:40813739 NCBI chrNW_004955437:20,700,912...20,705,076
Ensembl chrNW_004955437:20,700,718...20,706,929 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 disease_progression ISO DNA:polymorphisms, haplotype:promoter (human) RGD PMID:14960532 RGD:5684961 NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 susceptibility ISO associated with alexithymia;DNA:haplotypes, multiple: RGD PMID:26609890 RGD:11352995 NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711 		JBrowse link
G Smad4 SMAD family member 4 ISO protein:increased expression:liver: RGD PMID:29924446 RGD:21066342 NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538 		JBrowse link
G Spp1 secreted phosphoprotein 1 treatment ISO DNA:SNPs:promoter:-443C>T, -1748G>A (human) RGD PMID:15868370 RGD:1581374 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 severity ISO RGD PMID:17318196 RGD:8694293 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687 		JBrowse link
G Tlr3 toll like receptor 3 treatment
severity
disease_progression
susceptibility		 ISO treatment:peginterferon plus ribavirin.
DNA:SNP:cds:p.Leu412Phe(human)
DNA:SNP: :rs3775290(human)
DNA:SNP: :rs13126816 (human)		 RGD PMID:19674283 PMID:23220997 PMID:23240626 PMID:28480979 PMID:29860675 More... RGD:21079422 RGD:21079423 RGD:21079427 RGD:21079428 RGD:21079430 RGD:21079435 NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467 		JBrowse link
G Tlr4 toll like receptor 4 susceptibility ISO DNA:SNP: :rs2148356(human)
protein:increased expression:serum:		 RGD PMID:26095186 RGD:14700655 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135 		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 chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582 		JBrowse link
G Tnf tumor necrosis factor severity
treatment		 ISO protein:increased expression:plasma (human)
protein:increased expression:serum (human)		 RGD PMID:9047083 PMID:9440625 PMID:25708446 RGD:14995307 RGD:14995439 RGD:38456002 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO RGD PMID:21152182 RGD:8661764 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 treatment ISO RGD PMID:28036111 RGD:40400915 NCBI chrNW_004955454:6,171,575...6,200,879
Ensembl chrNW_004955454:6,171,569...6,203,091 		JBrowse link
G Vdr vitamin D receptor no_association
treatment		 ISO DNA:polymorphism: : RGD PMID:26725771 PMID:27263300 RGD:14401746 RGD:14401749 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048 		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 chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839 		JBrowse link
G Zc3h12a zinc finger CCCH-type containing 12A severity ISO protein:increased expression:liver (human) RGD PMID:21739451 PMID:25225661 RGD:39938960 RGD:39938976 NCBI chrNW_004955452:15,306,398...15,314,959
Ensembl chrNW_004955452:15,305,775...15,314,959 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease by infectious agent 1919
      viral infectious disease 1464
        viral hepatitis 148
          Human Viral Hepatitis 146
            hepatitis C 96
              Chronic Hepatitis C 63
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      gastrointestinal system disease 5961
        hepatobiliary disease 2621
          liver disease 2526
            hepatitis 220
              viral hepatitis 148
                Human Viral Hepatitis 146
                  hepatitis C 96
                    Chronic Hepatitis C 63
paths to the root