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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:hepatitis B
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Accession:DOID:2043 term browser browse the term
Definition:A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice. (DO)
Synonyms:exact_synonym: hepatitis B infection;   hepatitis B virus infection
 related_synonym: HBV, resistance to;   HBV, susceptibility to;   hepatitis B virus, resistance to;   hepatitis B virus, susceptibility to;   serum hepatitis
 primary_id: MESH:D006509
 alt_id: OMIM:610424
 xref: EFO:0004197;   NCI:C3097
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
hepatitis B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase treatment ISO RGD PMID:28063995 RGD:30310232 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Car9 carbonic anhydrase 9 disease_progression ISO DNA:SNP::rs2071676(human) RGD PMID:32297155 RGD:40903057 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:21914058 RGD:5683873 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 disease_progression
susceptibility
ISO DNA:polymorphisms:promoter:-403G>A,-28C>G (human)
DNA:polymorphisms: :
RGD PMID:30536991 PMID:23336202 PMID:22576913 PMID:19017985 RGD:14401739, RGD:14995331, RGD:14995330, RGD:14995327 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccnd2 cyclin D2 disease_progression ISO mRNA:decreased expression:Peripheral Blood Mononuclear Cell
DNA:SNP, haplotype:exon :rs1049606(human)
RGD PMID:33320844 PMID:20414251 RGD:151664743, RGD:151664744 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:19185001 RGD:6893388 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 susceptibility
disease_progression
ISO DNA:SNP: : rs1799987(human)
DNA:polymorphism:promoter:59029A>G,59353C>T
DNA:polymorphism: :DNA:deletion:Cds:
RGD PMID:29239247 PMID:17063508 PMID:27892677 RGD:14401574, RGD:14401727, RGD:14401575 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd68 Cd68 molecule ISO associated with inflammation;protein:increased expression:liver (human) RGD PMID:9699943 RGD:40925917 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 disease_progression ISO DNA:SNPs: :-1722T>C(rs733618), 49A>G(rs231775)6230G>A(rs3087243)(human) RGD PMID:15452244 RGD:14398731 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctnnb1 catenin beta 1 ISO associated with hepatocellular carcinoma;protein:increased expression:liver (human) RGD PMID:25536643 RGD:150429591 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 disease_progression ISO DNA:SNP:promoter:-201G>A(human) RGD PMID:18325387 RGD:27095959 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:SNP:promoter: -1260C>A (rs10877012) (human) RGD PMID:22963605 RGD:25671410 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Dock8 dedicator of cytokinesis 8 disease_progression ISO DNA:SNP::rs506121(human) RGD PMID:32297155 RGD:40903057 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 susceptibility ISO RGD PMID:34436958 RGD:155791665 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 disease_progression ISO RGD PMID:11861827 RGD:40902828 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:liver: RGD PMID:12526294 RGD:14700675 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO protein:increased expression:liver: RGD PMID:12526294 RGD:14700675 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fbxo11 F-box protein 11 ISO associated with hepatocellular carcinoma;protein:increased expression:liver (human) RGD PMID:29603830 RGD:152025266 NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
JBrowse link
G Foxp3 forkhead box P3 ISO associated with hepatocellular carcinoma; protein:increased expression:liver RGD PMID:21086571 RGD:38548919 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
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 Ifna1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15504288 NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
JBrowse link
G Ifna2 interferon alpha 2 treatment ISO RGD PMID:8509638 RGD:21406432 NCBI chr 5:103,258,617...103,259,195 JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16757563 PMID:25741868 PMID:28492532 NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15994231 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:15994231 PMID:20610715 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 More... NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
JBrowse link
G Il10 interleukin 10 treatment
no_association
ISO DNA:SNP, haplotypes:promoter:-1082G>A (rs1800896) (human)
DNA:SNPs:promoter:-592C>A (rs1800872), -819C>A (rs1800871) (human)
RGD PMID:27644568 PMID:27644568 RGD:14975150, RGD:14975150 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16757563 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29248579 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
JBrowse link
G Il18 interleukin 18 susceptibility
disease_progression
ISO associated with hepatocellular carcinoma; DNA:SNP:promoter:-137G>C(rs187238)(human)
DNA:SNPs:promoter,intron,exon:���148G>C, +8925C>G,+13925A>C(human)
RGD PMID:27429592 PMID:19466545 RGD:14695540, RGD:14696658 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:25968473 RGD:14747044 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21 interleukin 21 ISO mRNA:increased expression:spleen (C57BL/6N mouse) RGD PMID:29544722 RGD:127285375 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il27 interleukin 27 exacerbates ISO mRNA:increased expression:blood plasma (human)
protein:increased expression:blood serum (human)
RGD PMID:26925776 PMID:22766719 PMID:19081304 RGD:126790497, RGD:126790543, RGD:39128258 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
JBrowse link
G Il2rb interleukin 2 receptor subunit beta disease_progression ISO RGD PMID:29307521 RGD:42724467 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
JBrowse link
G Il4 interleukin 4 treatment ISO DNA:SNPs: :rs2243250,rs2227284(human) RGD PMID:28051794 RGD:14696676 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174C>G (human) RGD PMID:27268603 RGD:14975295 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irf1 interferon regulatory factor 1 disease_progression ISO RGD PMID:11861827 RGD:40902828 NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
JBrowse link
G Kat2a lysine acetyltransferase 2A treatment ISO RGD PMID:23913178 RGD:9590262 NCBI chr10:85,632,216...85,640,561
Ensembl chr10:85,632,216...85,640,166
JBrowse link
G Klrk1 killer cell lectin like receptor K1 treatment ISO RGD PMID:17991774 PMID:28318408 RGD:38676490, RGD:39128174 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human) RGD PMID:21196414 RGD:151347673 NCBI chr 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO DNA:haplotype:promoter,exon: RGD PMID:16231358 RGD:14696834 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mir100 microRNA 100 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
JBrowse link
G Mir122 microRNA 122 severity ISO CTD Direct Evidence: marker/mechanism
miRNA:decreased expression:liver
CTD
RGD
PMID:28545106 PMID:22105316 RGD:14401605 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr11:16,245,620...16,245,707 JBrowse link
G Mir146a microRNA 146a ameliorates ISO RGD PMID:27210312 RGD:126925163 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir148a microRNA 148a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 4:80,333,762...80,333,858
Ensembl chr 4:80,333,762...80,333,858
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:29349567 RGD:21408592 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir190 microRNA 190 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 8:67,850,987...67,851,071
Ensembl chr 8:67,850,987...67,851,071
JBrowse link
G Mir192 microRNA 192 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
JBrowse link
G Mir193b microRNA 193b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824
JBrowse link
G Mir194-2 microRNA 194-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845
JBrowse link
G Mir204 microRNA 204 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
JBrowse link
G Mir28 microRNA 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr11:75,975,523...75,975,608
Ensembl chr11:75,975,523...75,975,608
JBrowse link
G Mir365b microRNA 365b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr10:64,686,255...64,686,340
Ensembl chr10:64,686,252...64,686,351
JBrowse link
G Mir455 microRNA 455 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 5:76,689,313...76,689,390
Ensembl chr 5:76,689,313...76,689,390
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
JBrowse link
G Mirlet7c1 microRNA let-7c-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr11:16,201,163...16,201,256
Ensembl chr11:16,201,158...16,201,265
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 Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:transition:cds:g.677C>T (human)
DNA:missense mutations:cds:g.1298A>C, g.2756A>G
RGD PMID:18222012 PMID:18222012 RGD:38508898, RGD:38508898 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO associated with hepatocellular carcinoma;protein:decreased expression:liver (human) RGD PMID:28370778 RGD:150520169 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Nfkbia NFKB inhibitor alpha susceptibility ISO DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human) RGD PMID:25223483 RGD:40902986 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Pdcd1 programmed cell death 1 disease_progression
susceptibility
ISO DNA:SNP: :rs2227981(human)
DNA:SNPs,halptype: :rs36084323, rs2227981,rs2227982(human)
RGD PMID:31770816 PMID:29786123 PMID:28667037 RGD:40818272, RGD:40818423, RGD:40818414 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Plau plasminogen activator, urokinase severity ISO protein:increased expression:plasma RGD PMID:18691743 RGD:6483828 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Plaur plasminogen activator, urokinase receptor severity ISO protein:increased expression:plasma RGD PMID:18691743 RGD:6483828 NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 ISO associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) RGD PMID:25151370 RGD:151665185 NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II treatment ISO RGD PMID:24769044 RGD:14402034 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
JBrowse link
G Pten phosphatase and tensin homolog exacerbates ISO mRNA:decreased expression:liver (mouse) RGD PMID:31604033 RGD:127285593 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rnasel ribonuclease L ISO RGD PMID:11861827 RGD:40902828 NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
JBrowse link
G RT1-Ba RT1 class II, locus Ba disease_progression
susceptibility
no_association
ISO DNA:polymorphisms: :
DNA:polymorphism: :HLA-DQA1*0102 (human)
DNA:polymorphism: :rs9272346(human)
RGD PMID:20718347 PMID:17845309 PMID:24510573 PMID:30168489 RGD:14398754, RGD:126925986, RGD:14398837, RGD:14398755 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 treatment ISO RGD PMID:29979894 PMID:29042702 RGD:14865006, RGD:14865007 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Ha RT1 class II, locus Ha disease_progression ISO DNA:SNP: :rs3077(human) RGD PMID:27051043 RGD:14694816 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 severity
susceptibility
treatment
disease_progression
ISO DNA:SNPs, haplotype:3' utr:multiple (human)
DNA:SNP: :rs9277535(human)
DNA:SNP: :rs7770370(human)
DNA:polymorphisms:3-UTR:rs9277534(human)
RGD PMID:22496224 PMID:26197724 PMID:27051043 PMID:27083422 RGD:11553629 RGD:14694816 RGD:14694820 RGD:14694821 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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 Slc10a1 solute carrier family 10 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hepatitis B virus, resistance to
CTD
ClinVar
PMID:14660639 PMID:25418280 PMID:25550158 PMID:27882152 PMID:28835676 More... NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27444301 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:27312012 RGD:39128205 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO RGD PMID:30008718 RGD:15090859 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 disease_progression
susceptibility
ISO DNA:SNPs, haplotype: rs3775291,rs5743305 (human)
DNA:SNP, haplotype: rs1879026(human)
RGD PMID:30143709 PMID:22825813 RGD:21079424, RGD:21079431 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr9 toll-like receptor 9 susceptibility ISO DNA:SNP:exon:2848G>A (rs352140) (human) RGD PMID:25388852 RGD:18337480 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 treatment
severity
no_association
ISO DNA:SNP:promoter:-857C>T (rs1799724) (human)
DNA:SNPs:promoter:-863C>A, -308A>G (human)
DNA:SNP:promoter:-308G>A (rs1800629) (human)
RGD PMID:27644568 PMID:12915457 PMID:27644568 RGD:14975150, RGD:14995438, RGD:14975150 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO DNA:SNP: : rs8175347(human) RGD PMID:29239247 RGD:14401574 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 susceptibility ISO DNA:SNP: : rs2070959(human) RGD PMID:29239247 RGD:14401574 NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Vdr vitamin D receptor susceptibility
disease_progression
ISO DNA:polymorphisms, hapoltype: :
DNA:polymorphisms: :
RGD PMID:16733893 PMID:19693091 RGD:14401748, RGD:14402030 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, haplotype:cds:p.R399Q (human) RGD PMID:23454624 RGD:15036794 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 treatment ISO human gene in a mouse model RGD PMID:31926181 RGD:39938973 NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
JBrowse link
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 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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:27015844 PMID:25115832 RGD:5508214, RGD:25671432, RGD:25671433 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:missense mutations:cds:p.C112R, p.R158C (human) RGD PMID:20961200 RGD:14401585 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ameliorates ISO RGD PMID:25902529 RGD:152998939 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
JBrowse link
G C2 complement C2 susceptibility IAGP DNA:SNP:exon: p.Glu318Asp (human) RGD PMID:22610944 RGD:40886317 NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:decreased expression:serum: RGD PMID:26281331 RGD:14995947 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 ISO RGD PMID:17711627 RGD:14995339 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17657819 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Cd163 CD163 molecule ISO protein:increased expression:blood serum (human) RGD PMID:26339412 RGD:11251207 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd1d1 CD1d1 molecule ISO associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) RGD PMID:29643189 RGD:127345114 NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
JBrowse link
G Cd274 CD274 molecule treatment ISO protein:increased expression:regulatory T cell RGD PMID:26266813 PMID:20460044 RGD:11344683, RGD:41412166 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cemip2 cell migration inducing hyaluronidase 2 susceptibility ISO DNA:SNP:exon: p.Ser1254Asn (human) RGD PMID:22610944 RGD:40886317 NCBI chr 1:219,330,295...219,407,760
Ensembl chr 1:219,337,985...219,407,760
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP: :-318C>T(human) RGD PMID:16489681 RGD:14398727 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 treatment ISO mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium RGD PMID:30660173 PMID:18234638 RGD:27095888, RGD:27095951 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO RGD PMID:26234401 RGD:32716425 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
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:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Gpt glutamic--pyruvic transaminase treatment
disease_progression
ISO RGD PMID:29279233 PMID:28007350 RGD:14975159, RGD:14975240 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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 protein:increased expression:serum (human) RGD PMID:28465467 RGD:39939037 NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
JBrowse link
G Ifna2 interferon alpha 2 susceptibility ISO DNA:SNP:exon: p.Ala120Thr (human) RGD PMID:22610944 RGD:40886317 NCBI chr 5:103,258,617...103,259,195 JBrowse link
G Ifng interferon gamma ISO protein:decreased expression:serum (human) RGD PMID:26684441 PMID:28465467 RGD:14974255, RGD:39939037 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 mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21957142 RGD:126848748 NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
JBrowse link
G Il12a interleukin 12A ISO mRNA:increased expression:liver RGD PMID:26062743 RGD:11097839 NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
JBrowse link
G Il12b interleukin 12B susceptibility ISO DNA:SNP:3'utr: (rs3212227) RGD PMID:25469587 RGD:11074616 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il18 interleukin 18 disease_progression ISO DNA:SNP:promoter:-607C>A(human) RGD PMID:27470888 RGD:14696663 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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 chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism:promoter:-385T>G(human) RGD PMID:19105930 RGD:14747034 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21 interleukin 21 susceptibility
exacerbates
treatment
ISO DNA:SNP:intron: (rs2221903) (human)
protein:decreased expression:blood serum (human)
protein:increased expression:blood serum (human)
DNA:SNPs:introns: (rs2221903, rs907715) (human)
associated with non-alcoholic fatty liver disease
RGD PMID:23354321 PMID:28500636 PMID:30260401 PMID:32373234 PMID:25243706 More... RGD:127285353, RGD:127285361, RGD:127285364, RGD:127285369, RGD:127285378, RGD:127285539, RGD:127285549, RGD:127285551 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il33 interleukin 33 severity
treatment
ISO RGD PMID:27180842 PMID:25714983 RGD:39457933, RGD:39938954 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Il4 interleukin 4 disease_progression
treatment
ISO DNA:SNP:promoter:-590C>T (human) RGD PMID:26281177 PMID:21331994 RGD:14696675, RGD:14696697 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:serum RGD PMID:24836184 RGD:40903002 NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
JBrowse link
G Jak1 Janus kinase 1 disease_progression ISO DNA:SNPs: :rs4244165, rs17127024 (human) RGD PMID:22901011 RGD:19165132 NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO mRNA:decreased expression:liver (human) RGD PMID:22459801 RGD:6892954 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
JBrowse link
G Klrc1 killer cell lectin like receptor C1 severity ISO protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:28328926 RGD:40400737 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 susceptibility ISO DNA:SNP:intron 1:(rs2617160) (human) RGD PMID:20648603 RGD:39018553 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 phosphorylation:liver (human)
protein:increased degradation:serum (human)
RGD PMID:20334631 PMID:28579343 RGD:18337487, RGD:18337494 NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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 Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype: : RGD PMID:27824315 RGD:14696831 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mir106b microRNA 106b severity IEP associated with hepatocellular carcinoma;miRNA:increased expression:liver (human) RGD PMID:27298561 RGD:15042853 NCBI chr12:17,043,344...17,043,425
Ensembl chr12:17,043,344...17,043,425
JBrowse link
G Mir146a microRNA 146a ISO mRNA:increased expression:T cell (human) RGD PMID:23698745 RGD:126925146 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:30735455 RGD:21081537 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO protein:decreased expression:blood serum (human) RGD PMID:28871230 RGD:150340590 NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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:28328926 PMID:29625837 PMID:26291078 RGD:40400737, RGD:39128177, RGD:40818237 NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
JBrowse link
G Nfkbia NFKB inhibitor alpha disease_progression ISO DNA:enhancers: :(rs2233406, rs2233409) (human) RGD PMID:29093318 RGD:127285389 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Pdcd1 programmed cell death 1 disease_progression
no_association
ISO DNA:SNP:3' UTR:rs10204525(human)
DNA:SNPs::+7146 G>A,+7209 C>T(human)
DNA:SNP:exon:
protein:altered expression:serum:
RGD PMID:30016557 PMID:25736598 PMID:20700634 PMID:28983583 RGD:40818231, RGD:40818233, RGD:40818262, RGD:40818415 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A ISO mRNA,protein:increased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr 1:96,000,053...96,003,128
Ensembl chr 1:96,000,058...96,003,171
JBrowse link
G Prdm1 PR/SET domain 1 disease_progression ISO RGD PMID:31100710 RGD:150530465 NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment
susceptibility
disease_progression
ISO DNA:polymorphisms: :
DNA:polymorphism: :
DNA:polymorphisms: :HLA-DQA1*0303, HLA-DQA1*0505(human)
DNA:haplotype::
DNA:polymorphisms: :HLA-DQA1*0101/2/4, HLA-DQA1*0103 (human)
RGD PMID:27386643 PMID:14562382 PMID:15237447 PMID:16883532 PMID:22807686 More... RGD:14398752, RGD:14398759, RGD:14398838, RGD:14398840, RGD:14398843, RGD:14398755 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 no_association
treatment
ISO DNA:polymorphisms (human)
DNA:polymorphisms: :multiple
DNA:SNP: :rs2856718 (human)
DNA:polymorphism: :HLA-DQB1*07(human)
RGD PMID:16893387 PMID:29287219 PMID:28267888 PMID:16237774 RGD:5147637, RGD:14865012, RGD:14974232, RGD:36049762 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
susceptibility
ISO DNA:haplotype::
DNA:polymorphisms: :
RGD PMID:16883532 PMID:16237774 RGD:14398840, RGD:36049762 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 susceptibility
disease_progression
treatment
ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs3077(human)
mRNA:decreased expression:peripheral blood mononuclear cell:
DNA:polymorphism::HLA-DPA1*04:01(human)
CTD
RGD
PMID:19349983 PMID:30267609 PMID:30267609 PMID:28275747 PMID:29300980 RGD:14694817, RGD:14694817, RGD:14694818, RGD:14694973 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 treatment
susceptibility
severity
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :(human)
DNA:SNP: :rs33054861(human)
DNA:polymorphism:exon, 3' utr: (rs9277535) (human)
DNA:polymorphisms:multiple (human)
DNA:polymorphisms, haplotypes:multiple (human)
DNA:SNP:exon, 3' utr: (rs9277542) (human)
DNA:SNPs:multiple (human)
DNA:SNP:exon 6: (rs9277542) (human)
CTD
RGD
PMID:19349983 PMID:21274863 PMID:21310144 PMID:22737229 PMID:24520320 More... RGD:11536957 RGD:14694816 RGD:14974232 RGD:150429660 RGD:150429794 RGD:150429799 RGD:150429802 RGD:150429807 RGD:150429808 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
JBrowse link
G Stat2 signal transducer and activator of transcription 2 ISO mRNA:decreased expression:monocyte (human) RGD PMID:30842274 RGD:41789632 NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNPs, haplotypes:multiple RGD PMID:25829184 RGD:25671420 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 susceptibility ISO DNA:hypermethylation:promoter RGD PMID:30593207 RGD:39128221 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO mRNA:decreased expression:blood RGD PMID:21843574 RGD:6482248 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tert telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs10069690,rs2242652(human) RGD PMID:29507683 RGD:14696786 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tgfb1 transforming growth factor, beta 1 no_association ISO DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human)
DNA:SNPs:promoter:-509C>T (rs1800469) (human)
RGD PMID:28700046 PMID:28700046 RGD:14995436, RGD:14995436 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression
treatment
ISO protein:increased expression:serum: RGD PMID:28414577 PMID:25337250 PMID:25771704 RGD:15090812, RGD:15090826, RGD:15090828 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 susceptibility ISO DNA:snp: :rs3775290(human)
DNA:SNP, haplotype: :1234C>T (human)
RGD PMID:26024592 PMID:23076446 RGD:21079416, RGD:21079425 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:serum: RGD PMID:28414577 RGD:15090812 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:liver, CD14-positive monocyte (human)
DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human)
mRNA, protein:decreased expression:peripheral blood mononuclear cell (human)
protein: increased expression:peripheral blood mononuclear cell (human)
protein:increased expression:peripheral blood mononuclear cell (human)
RGD PMID:24622882 PMID:30453064 PMID:19513613 PMID:18215354 PMID:27126946 RGD:18337464, RGD:18337467, RGD:18337470, RGD:18337472, RGD:18337474 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 susceptibility ISO DNA:SNP,haplotypes: (rs148314165, rs200820567) (human) RGD PMID:28784141 RGD:151347613 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Tnfsf13b TNF superfamily member 13b treatment ISO RGD PMID:30660173 RGD:27095888 NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162738 NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO protein:increased expression:blood serum (human) RGD PMID:20534899 RGD:151361169 NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease by infectious agent 2214
      viral infectious disease 1680
        DNA Virus Infections 306
          Hepadnaviridae Infections 126
            hepatitis B 126
              Chronic Hepatitis B 66
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      gastrointestinal system disease 7050
        hepatobiliary disease 3066
          liver disease 2954
            hepatitis 293
              viral hepatitis 204
                Human Viral Hepatitis 201
                  hepatitis B 126
                    Chronic Hepatitis B 66
paths to the root