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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 B
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Accession:DOID:9008163 term browser browse the term
Definition:INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.
Synonyms:primary_id: MESH:D019694


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Chronic Hepatitis B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific treatment ISO DNA:SNP:enhancer: (rs4845384) (human) RGD PMID:24351124 RGD:125097515 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999 		JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression
mRNA, protein:decreased expression:liver, serum (human)
protein:decreased expression:plasma (human) 		RGD PMID:21726101 PMID:25115832 PMID:27015844 RGD:25671432 RGD:25671433 RGD:5508214 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:missense mutations:cds:p.C112R, p.R158C (human) RGD PMID:20961200 RGD:14401585 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G B9D2 B9 domain containing 2 no_association ISO DNA:SNPs:promoter:-509C>T (rs1800469) (human)
DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human) 		RGD PMID:28700046 RGD:14995436 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ameliorates ISO RGD PMID:25902529 RGD:152998939 NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240 		JBrowse link
G C2 complement C2 susceptibility ISO DNA:SNP:exon: p.Glu318Asp (human) RGD PMID:22610944 RGD:40886317 NCBI chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:decreased expression:serum: RGD PMID:26281331 RGD:14995947 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL5 C-C motif chemokine ligand 5 severity ISO RGD PMID:17711627 RGD:14995339 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17657819 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145 		JBrowse link
G CD163 CD163 molecule ISO protein:increased expression:blood serum (human) RGD PMID:26339412 RGD:11251207 NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106 		JBrowse link
G CD1D CD1d molecule ISO associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) RGD PMID:29643189 RGD:127345114 NCBI chr38:23,489,169...23,491,712 JBrowse link
G CD274 CD274 molecule treatment ISO protein:increased expression:regulatory T cell RGD PMID:20460044 PMID:26266813 RGD:11344683 RGD:41412166 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522 		JBrowse link
G CEMIP2 cell migration inducing hyaluronidase 2 susceptibility ISO DNA:SNP:exon: p.Ser1254Asn (human) RGD PMID:22610944 RGD:40886317 NCBI chr 1:85,944,255...86,020,955
Ensembl chr 1:85,945,557...86,019,195 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :-318C>T(human) RGD PMID:16489681 RGD:14398727 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium RGD PMID:18234638 PMID:30660173 RGD:27095888 RGD:27095951 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO mRNA, protein:increased expression:serum, peripheral blood mononuclear cell (human)
associated with liver disease;mRNA, protein:increased expression:liver, blood serum (human) 		RGD PMID:23890815 PMID:26265888 RGD:11075958 RGD:150520196 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 treatment
no_association 		ISO DNA:polymorphism: :HLA-DQB1*07(human)
DNA:polymorphisms (human)
DNA:polymorphisms: :multiple
DNA:SNP: :rs2856718 (human) 		RGD PMID:16237774 PMID:16893387 PMID:28267888 PMID:29287219 RGD:14865012 RGD:14974232 RGD:36049762 RGD:5147637 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DLA-DRB1 MHC class II DLA DRB1 beta chain disease_progression
susceptibility 		ISO DNA:haplotype::
DNA:polymorphisms: :
DNA:polymorphism:cds:HLA-DRB1*07 (human) 		RGD PMID:16094724 PMID:16237774 PMID:16883532 RGD:14398840 RGD:36049762 RGD:40818403 NCBI chr12:2,151,409...2,164,564 JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO RGD PMID:26234401 RGD:32716425 NCBI chr17:37,886,397...37,950,671
Ensembl chr17:37,886,601...37,949,812 		JBrowse link
G FOXP3 forkhead box P3 ISO mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: RGD PMID:18673437 PMID:21489307 RGD:38548921 RGD:38549358 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		JBrowse link
G GPT glutamic--pyruvic transaminase treatment
disease_progression 		ISO RGD PMID:28007350 PMID:29279233 RGD:14975159 RGD:14975240 NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO protein:increased expression:serum (human) RGD PMID:28465467 RGD:39939037 NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048 		JBrowse link
G IFNG interferon gamma ISO protein:decreased expression:serum (human) RGD PMID:26684441 PMID:28465467 RGD:14974255 RGD:39939037 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IL12A interleukin 12A ISO mRNA:increased expression:liver RGD PMID:26062743 RGD:11097839 NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550 		JBrowse link
G IL12B interleukin 12B susceptibility ISO DNA:SNP:3'utr: (rs3212227) RGD PMID:25469587 RGD:11074616 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228 		JBrowse link
G IL18 interleukin 18 disease_progression ISO DNA:SNP:promoter:-607C>A(human) RGD PMID:27470888 RGD:14696663 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity ISO protein:increased expression:serum: RGD PMID:27180842 PMID:28381383 RGD:39457933 RGD:39938857 NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357 		JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism:promoter:-385T>G(human) RGD PMID:19105930 RGD:14747034 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G IL21 interleukin 21 treatment
susceptibility
exacerbates 		ISO DNA:SNPs:introns: (rs2221903, rs907715) (human)
DNA:SNP:intron: (rs2221903) (human)
protein:decreased expression:blood serum (human)
associated with non-alcoholic fatty liver disease
protein:increased expression:blood serum (human) 		RGD PMID:23354321 PMID:25243706 PMID:26840345 PMID:28500636 PMID:29879024 More... RGD:127285353 RGD:127285361 RGD:127285364 RGD:127285369 RGD:127285378 RGD:127285539 RGD:127285549 RGD:127285551 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266 		JBrowse link
G IL29L interleukin 29-like ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21957142 RGD:126848748 NCBI chr24:36,440,445...36,441,017
Ensembl chr24:36,440,445...36,441,017 		JBrowse link
G IL32 interleukin 32 exacerbates ISO mRNA, protein:increased expression:liver (human) RGD PMID:22687868 RGD:150340733 NCBI chr 6:38,119,287...38,122,979 JBrowse link
G IL33 interleukin 33 severity
treatment 		ISO RGD PMID:25714983 PMID:27180842 RGD:39457933 RGD:39938954 NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721 		JBrowse link
G IL4 interleukin 4 disease_progression
treatment 		ISO DNA:SNP:promoter:-590C>T (human) RGD PMID:21331994 PMID:26281177 RGD:14696675 RGD:14696697 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534 		JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:serum RGD PMID:24836184 RGD:40903002
G JAK1 Janus kinase 1 disease_progression ISO DNA:SNPs: :rs4244165, rs17127024 (human) RGD PMID:22901011 RGD:19165132 NCBI chr 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO mRNA:decreased expression:liver (human) RGD PMID:22459801 RGD:6892954 NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 susceptibility ISO DNA:SNP:intron 1:(rs2617160) (human) RGD PMID:20648603 RGD:39018553 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882 		JBrowse link
G KRT18 keratin 18 severity
disease_progression 		ISO protein:increased degradation:serum (human)
protein:increased phosphorylation:liver (human) 		RGD PMID:20334631 PMID:28579343 RGD:18337487 RGD:18337494 NCBI chr27:2,189,269...2,193,368
Ensembl chr27:2,189,269...2,193,368 		JBrowse link
G LEPR leptin receptor ISO mRNA:altered expression:liver, peripheral blood mononuclear cell RGD PMID:17060687 RGD:21079470 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		JBrowse link
G MBL1 mannose binding lectin 1 severity ISO DNA:haplotype: : RGD PMID:27824315 RGD:14696831 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MIR106B microRNA mir-106b severity ISO associated with hepatocellular carcinoma;miRNA:increased expression:liver (human) RGD PMID:27298561 RGD:15042853 NCBI chr 6:9,498,558...9,498,616
Ensembl chr 6:9,498,558...9,498,616 		JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:30735455 RGD:21081537 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MIR885 microRNA mir-885 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738331 NCBI chr20:7,968,529...7,968,602
Ensembl chr20:7,968,529...7,968,602 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO protein:decreased expression:blood serum (human) RGD PMID:28871230 RGD:150340590 NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 severity
disease_progression 		ISO protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:Peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 		RGD PMID:26291078 PMID:28328926 PMID:29625837 RGD:39128177 RGD:40400737 RGD:40818237 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		JBrowse link
G NFKBIA NFKB inhibitor alpha disease_progression ISO DNA:enhancers: :(rs2233406, rs2233409) (human) RGD PMID:29093318 RGD:127285389 NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433 		JBrowse link
G PDCD1 programmed cell death 1 disease_progression
no_association 		ISO mRNA:increased expression:liver parenchyma (human)
DNA:SNP:3' UTR:rs10204525(human)
DNA:SNPs::+7146 G>A,+7209 C>T(human)
DNA:SNP:exon:
protein:altered expression:serum: 		RGD PMID:20700634 PMID:22634051 PMID:25736598 PMID:28983583 PMID:30016557 RGD:36947881 RGD:40818231 RGD:40818233 RGD:40818262 RGD:40818415 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA,protein:increased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr 1:107,486,399...107,490,151
Ensembl chr 1:107,486,438...107,489,222 		JBrowse link
G PRDM1 PR/SET domain 1 disease_progression ISO RGD PMID:31100710 RGD:150530465 NCBI chr12:63,454,242...63,495,278
Ensembl chr12:63,470,974...63,495,579 		JBrowse link
G STAT2 signal transducer and activator of transcription 2 ISO mRNA:decreased expression:monocyte (human) RGD PMID:30842274 RGD:41789632 NCBI chr10:641,543...660,882
Ensembl chr10:642,718...658,546 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNPs, haplotypes:multiple RGD PMID:25829184 RGD:25671420 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 susceptibility ISO DNA:hypermethylation:promoter RGD PMID:30593207 RGD:39128221 NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO mRNA:decreased expression:blood RGD PMID:21843574 RGD:6482248 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TERT telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs10069690,rs2242652(human) RGD PMID:29507683 RGD:14696786 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TLR2 toll like receptor 2 treatment
disease_progression 		ISO protein:increased expression:serum: RGD PMID:25337250 PMID:25771704 PMID:28414577 RGD:15090812 RGD:15090826 RGD:15090828 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241 		JBrowse link
G TLR3 toll like receptor 3 susceptibility ISO DNA:SNP, haplotype: :1234C>T (human)
DNA:snp: :rs3775290(human) 		RGD PMID:23076446 PMID:26024592 RGD:21079416 RGD:21079425 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247 		JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:serum: RGD PMID:28414577 RGD:15090812 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TLR9 toll like receptor 9 severity ISO mRNA, protein:decreased expression:peripheral blood mononuclear cell (human)
DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human)
protein:increased expression:peripheral blood mononuclear cell (human)
protein: increased expression:peripheral blood mononuclear cell (human)
mRNA, protein: decreased expression:liver, CD14-positive monocyte (human) 		RGD PMID:18215354 PMID:19513613 PMID:24622882 PMID:27126946 PMID:30453064 RGD:18337464 RGD:18337467 RGD:18337470 RGD:18337472 RGD:18337474 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 susceptibility ISO DNA:SNP,haplotypes: (rs148314165, rs200820567) (human) RGD PMID:28784141 RGD:151347613 NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001 		JBrowse link
G TNFSF13B TNF superfamily member 13b treatment ISO RGD PMID:30660173 RGD:27095888 NCBI chr22:57,036,307...57,069,053
Ensembl chr22:57,036,292...57,068,320 		JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162738 NCBI chr26:30,835,222...30,899,842
Ensembl chr26:30,823,209...30,898,324 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO protein:increased expression:blood serum (human) RGD PMID:20534899 RGD:151361169 NCBI chr 5:78,450,963...78,635,615
Ensembl chr 5:78,455,005...78,610,033 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15760
    disease by infectious agent 2169
      viral infectious disease 1664
        DNA Virus Infections 321
          Hepadnaviridae Infections 122
            hepatitis B 122
              Chronic Hepatitis B 62
Path 2
Term Annotations click to browse term
  disease 15760
    disease of anatomical entity 15380
      gastrointestinal system disease 6645
        hepatobiliary disease 2958
          liver disease 2856
            hepatitis 287
              viral hepatitis 194
                Human Viral Hepatitis 190
                  hepatitis B 122
                    Chronic Hepatitis B 62
paths to the root