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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:Hepadnaviridae Infections
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Accession:DOID:9004126 term browser browse the term
Definition:Virus diseases caused by the HEPADNAVIRIDAE.
Synonyms:exact_synonym: Hepadnaviridae Infection;   Hepadnaviridae infectious disease
 primary_id: MESH:D018347;   RDO:0005778
 xref: EFO:0007301



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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 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304
JBrowse link
G APOA1 apolipoprotein A1 ISO 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 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:missense mutations:cds:p.C112R, p.R158C (human) RGD PMID:20961200 RGD:14401585 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ameliorates ISO RGD PMID:25902529 RGD:152998939 NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,003,276...33,020,242
JBrowse link
G C2 complement C2 susceptibility ISO DNA:SNP:exon: p.Glu318Asp (human) RGD PMID:22610944 RGD:40886317 NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,033,930
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:decreased expression:serum: RGD PMID:26281331 RGD:14995947 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCL5 C-C motif chemokine ligand 5 severity ISO RGD PMID:17711627 RGD:14995339 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17657819 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
JBrowse link
G CD163 CD163 molecule ISO protein:increased expression:blood serum (human) RGD PMID:26339412 RGD:11251207 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
JBrowse link
G CD1D CD1d molecule ISO associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) RGD PMID:29643189 RGD:127345114 NCBI chr 4:92,096,670...92,101,177
Ensembl chr 4:92,094,700...92,101,095
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 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
JBrowse link
G CEMIP2 cell migration inducing hyaluronidase 2 susceptibility ISO DNA:SNP:exon: p.Ser1254Asn (human) RGD PMID:22610944 RGD:40886317 NCBI chr 1:224,960,875...225,042,378
Ensembl chr 1:224,960,875...225,042,308
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :-318C>T(human) RGD PMID:16489681 RGD:14398727 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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 chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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 chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO RGD PMID:26234401 RGD:32716425 NCBI chr 3:57,423,894...57,506,247
Ensembl chr 3:57,423,943...57,506,245
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:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
JBrowse link
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO protein:increased expression:serum (human) RGD PMID:28465467 RGD:39939037 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
JBrowse link
G IFNG interferon gamma ISO protein:decreased expression:serum (human) RGD PMID:26684441 PMID:28465467 RGD:14974255 RGD:39939037 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IL12A interleukin 12A ISO mRNA:increased expression:liver RGD PMID:26062743 RGD:11097839 NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078
JBrowse link
G IL12B interleukin 12B susceptibility ISO DNA:SNP:3'utr: (rs3212227) RGD PMID:25469587 RGD:11074616 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
JBrowse link
G IL18 interleukin 18 disease_progression ISO DNA:SNP:promoter:-607C>A(human) RGD PMID:27470888 RGD:14696663 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism:promoter:-385T>G(human) RGD PMID:19105930 RGD:14747034 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL21 interleukin 21 treatment
exacerbates
susceptibility
ISO protein:increased expression:blood serum (human)
protein:decreased expression:blood serum (human)
associated with non-alcoholic fatty liver disease
DNA:SNPs:introns: (rs2221903, rs907715) (human)
DNA:SNP:intron: (rs2221903) (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 chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
JBrowse link
G IL29 interleukin 29 (interferon, lambda 1) ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21957142 RGD:126848748 NCBI chr17:51,484,658...51,485,233
Ensembl chr17:51,484,658...51,485,233
JBrowse link
G IL33 interleukin 33 severity
treatment
ISO RGD PMID:25714983 PMID:27180842 RGD:39457933 RGD:39938954 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G IL4 interleukin 4 treatment
disease_progression
ISO DNA:SNP:promoter:-590C>T (human) RGD PMID:21331994 PMID:26281177 RGD:14696675 RGD:14696697 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:serum RGD PMID:24836184 RGD:40903002 NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
JBrowse link
G JAK1 Janus kinase 1 disease_progression ISO DNA:SNPs: :rs4244165, rs17127024 (human) RGD PMID:22901011 RGD:19165132 NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO mRNA:decreased expression:liver (human) RGD PMID:22459801 RGD:6892954 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382
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 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
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 chr 5:18,217,686...18,221,432
Ensembl chr 5:18,217,691...18,221,429
JBrowse link
G LEPR leptin receptor ISO mRNA:altered expression:liver, peripheral blood mononuclear cell RGD PMID:17060687 RGD:21079470 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
JBrowse link
G LOC100523789 NKG2-A/NKG2-B type II integral membrane protein severity ISO protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:28328926 RGD:40400737 NCBI chr 5:61,621,869...61,633,693 JBrowse link
G LOC102161030 interferon lambda-4 severity
disease_progression
ISO DNA:SNP:5'utr: (rs12979860) (human)
DNA:frameshift mutation,substitution:5'utr: p.P70S (rs368234815, rs117648444)
RGD PMID:25740255 PMID:28732143 RGD:40400752 RGD:40886279 NCBI chr 6:47,946,679...47,948,710 JBrowse link
G MBL2 mannose binding lectin 2 severity ISO DNA:haplotype: : RGD PMID:27824315 RGD:14696831 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:30735455 RGD:21081537 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MIR885 microRNA mir-885 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738331 NCBI chr13:66,597,531...66,597,610
Ensembl chr13:66,597,531...66,597,610
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO protein:decreased expression:blood serum (human) RGD PMID:28871230 RGD:150340590 NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 severity
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:peripheral blood mononuclear cell, natural killer cell (human)
RGD PMID:26291078 PMID:28328926 PMID:29625837 RGD:39128177 RGD:40400737 RGD:40818237 NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
JBrowse link
G NFKBIA NFKB inhibitor alpha disease_progression ISO DNA:enhancers: :(rs2233406, rs2233409) (human) RGD PMID:29093318 RGD:127285389 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
JBrowse link
G PDCD1 programmed cell death 1 no_association
disease_progression
ISO mRNA:increased expression:liver parenchyma (human)
DNA:SNPs::+7146 G>A,+7209 C>T(human)
DNA:SNP:3' UTR:rs10204525(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 chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA,protein:increased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr 6:54,172,038...54,175,461
Ensembl chr 6:54,172,050...54,175,463
JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A disease_progression
treatment
ISO RGD PMID:28007350 PMID:29279233 RGD:14975159 RGD:14975240 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056
JBrowse link
G PRDM1 PR/SET domain 1 disease_progression ISO RGD PMID:31100710 RGD:150530465 NCBI chr 1:72,309,096...72,335,474
Ensembl chr 1:72,311,880...72,335,466
JBrowse link
G SLA-3 MHC class I antigen 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162738 NCBI chr 7:22,938,211...22,942,735 JBrowse link
G STAT2 signal transducer and activator of transcription 2 ISO mRNA:decreased expression:monocyte (human) RGD PMID:30842274 RGD:41789632 NCBI chr 5:21,733,030...21,748,960
Ensembl chr 5:21,733,035...21,751,354
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNPs, haplotypes:multiple RGD PMID:25829184 RGD:25671420 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 susceptibility ISO DNA:hypermethylation:promoter RGD PMID:30593207 RGD:39128221 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO mRNA:decreased expression:blood RGD PMID:21843574 RGD:6482248 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843
JBrowse link
G TERT telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs10069690,rs2242652(human) RGD PMID:29507683 RGD:14696786 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
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 RGD:14995436 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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 chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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 chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:serum: RGD PMID:28414577 RGD:15090812 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TLR9 toll like receptor 9 severity ISO DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human)
protein: increased expression:peripheral blood mononuclear cell (human)
mRNA, protein:decreased 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 chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 susceptibility ISO DNA:SNP,haplotypes: (rs148314165, rs200820567) (human) RGD PMID:28784141 RGD:151347613 NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
JBrowse link
G TNFSF13B TNF superfamily member 13b treatment ISO RGD PMID:30660173 RGD:27095888 NCBI chr11:75,599,296...75,633,044
Ensembl chr11:75,599,598...75,633,041
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162738 NCBI chr14:50,265,102...50,315,409 JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO protein:increased expression:blood serum (human) RGD PMID:20534899 RGD:151361169 NCBI chr 6:15,693,987...15,941,301
Ensembl chr 6:15,698,199...15,863,270
JBrowse link
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 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369
JBrowse link
G CA9 carbonic anhydrase 9 disease_progression ISO DNA:SNP::rs2071676(human) RGD PMID:32297155 RGD:40903057 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO RGD PMID:21914058 RGD:5683873 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility
disease_progression
ISO DNA:polymorphisms:promoter:-403G>A,-28C>G (human)
DNA:polymorphisms: :
RGD PMID:19017985 PMID:22576913 PMID:23336202 PMID:30536991 RGD:14401739 RGD:14995327 RGD:14995330 RGD:14995331 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCND2 cyclin D2 disease_progression ISO DNA:SNP, haplotype:exon :rs1049606(human)
mRNA:decreased expression:Peripheral Blood Mononuclear Cell
RGD PMID:20414251 PMID:33320844 RGD:151664743 RGD:151664744 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:19185001 RGD:6893388 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343
JBrowse link
G CCR5 C-C motif chemokine receptor 5 susceptibility
disease_progression
ISO DNA:polymorphism: :DNA:deletion:Cds:
DNA:SNP: : rs1799987(human)
DNA:polymorphism:promoter:59029A>G,59353C>T
RGD PMID:17063508 PMID:27892677 PMID:29239247 RGD:14401574 RGD:14401575 RGD:14401727 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G CD68 CD68 molecule ISO associated with inflammation;protein:increased expression:liver (human) RGD PMID:9699943 RGD:40925917 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G CTNNB1 catenin beta 1 ISO associated with hepatocellular carcinoma;protein:increased expression:liver (human) RGD PMID:25536643 RGD:150429591 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
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 chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 severity ISO DNA:SNP:promoter: -1260C>A (rs10877012) (human) RGD PMID:22963605 RGD:25671410 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
JBrowse link
G DOCK8 dedicator of cytokinesis 8 disease_progression ISO DNA:SNP::rs506121(human) RGD PMID:32297155 RGD:40903057 NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953
JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 susceptibility ISO RGD PMID:34436958 RGD:155791665 NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 disease_progression ISO RGD PMID:11861827 RGD:40902828 NCBI chr 3:103,041,029...103,096,741
Ensembl chr 3:103,041,221...103,096,738
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:liver: RGD PMID:12526294 RGD:14700675 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FASLG Fas ligand ISO protein:increased expression:liver: RGD PMID:12526294 RGD:14700675 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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 3:92,696,402...92,792,623
Ensembl chr 3:92,696,441...92,792,616
JBrowse link
G FOXP3 forkhead box P3 ISO associated with hepatocellular carcinoma; protein:increased expression:liver RGD PMID:21086571 RGD:38548919 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
JBrowse link
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IFNA1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15504288 NCBI chr 1:201,515,835...201,516,477
Ensembl chr 1:201,515,809...201,516,488
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 ClinVar
OMIM
PMID:16757563 PMID:25741868 PMID:28492532 NCBI chr13:196,765,915...196,852,640
Ensembl chr13:196,766,087...196,852,635
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15994231 NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:15994231 PMID:20610715 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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 ClinVar
OMIM
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 More... NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
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 RGD:14975150 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G IL10RB interleukin 10 receptor subunit beta susceptibility ISO ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to ClinVar
OMIM
PMID:16757563 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29248579 NCBI chr13:196,853,606...196,884,237
Ensembl chr13:196,853,467...196,884,928
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:19466545 PMID:27429592 RGD:14695540 RGD:14696658 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:25968473 RGD:14747044 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL21 interleukin 21 ISO mRNA:increased expression:spleen (C57BL/6N mouse) RGD PMID:29544722 RGD:127285375 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
JBrowse link
G IL27 interleukin 27 exacerbates ISO protein:increased expression:blood serum (human)
mRNA:increased expression:blood plasma (human)
RGD PMID:19081304 PMID:22766719 PMID:26925776 RGD:126790497 RGD:126790543 RGD:39128258 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL2RB interleukin 2 receptor subunit beta disease_progression ISO RGD PMID:29307521 RGD:42724467 NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
JBrowse link
G IL4 interleukin 4 treatment ISO DNA:SNPs: :rs2243250,rs2227284(human) RGD PMID:28051794 RGD:14696676 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 ISO DNA:SNP:promoter:-174C>G (human) RGD PMID:27268603 RGD:14975295 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IRF1 interferon regulatory factor 1 disease_progression ISO RGD PMID:11861827 RGD:40902828 NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
JBrowse link
G KAT2A lysine acetyltransferase 2A treatment ISO RGD PMID:23913178 RGD:9590262 NCBI chr12:20,638,493...20,647,464
Ensembl chr12:20,638,497...20,647,461
JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO RGD PMID:17991774 PMID:28318408 RGD:38676490 RGD:39128174 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594
JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,867...7,540,704
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 3:52,483,028...52,649,480
Ensembl chr 3:52,484,274...52,649,410
JBrowse link
G MBL2 mannose binding lectin 2 disease_progression ISO DNA:haplotype:promoter,exon: RGD PMID:16231358 RGD:14696834 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MIR100 microRNA mir-100 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 9:49,157,909...49,157,988
Ensembl chr 9:49,157,909...49,157,988
JBrowse link
G MIR122 microRNA mir-122 severity ISO miRNA:decreased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22105316 PMID:28545106 RGD:14401605 NCBI chr 1:162,329,776...162,329,860
Ensembl chr 1:162,329,767...162,329,860
JBrowse link
G MIR148A microRNA mir-148a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr18:46,415,213...46,415,280
Ensembl chr18:46,415,202...46,415,281
JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:29349567 RGD:21408592 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MIR190A microRNA mir-190a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 1:109,225,385...109,225,466
Ensembl chr 1:109,225,386...109,225,470
JBrowse link
G MIR192 microRNA mir-192 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746
JBrowse link
G MIR204 microRNA mir-204 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 1:224,065,494...224,065,602
Ensembl chr 1:224,065,494...224,065,602
JBrowse link
G MIR28 microRNA mir-28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr13:126,282,167...126,282,252
Ensembl chr13:126,282,167...126,282,252
JBrowse link
G MIR365-1 microRNA mir-365-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 3:28,908,137...28,908,216
Ensembl chr 3:28,908,129...28,908,219
JBrowse link
G MIR365-2 microRNA mir-365-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr12:43,324,725...43,324,804
Ensembl chr12:43,324,728...43,324,809
JBrowse link
G MIR378-1 microRNA mir-378-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 2:150,825,865...150,825,944
Ensembl chr 2:150,825,865...150,825,944
JBrowse link
G MIR455 microRNA mir-455 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 1:254,824,200...254,824,279
Ensembl chr 1:254,824,196...254,824,291
JBrowse link
G MIR885 microRNA mir-885 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr13:66,597,531...66,597,610
Ensembl chr13:66,597,531...66,597,610
JBrowse link
G MIR99A microRNA mir-99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr13:181,302,483...181,302,562
Ensembl chr13:181,302,478...181,302,567
JBrowse link
G MIRLET7C microRNA let-7c ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr13:181,303,209...181,303,302
Ensembl chr13:181,303,209...181,303,302
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO mRNA:decreased expression:liver (human) RGD PMID:23157389 RGD:126925755 NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625
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 RGD:38508898 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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 chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109
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 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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:28667037 PMID:29786123 PMID:31770816 RGD:40818272 RGD:40818414 RGD:40818423 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G PLAU plasminogen activator, urokinase severity ISO protein:increased expression:plasma RGD PMID:18691743 RGD:6483828 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G PLAUR plasminogen activator, urokinase receptor severity ISO protein:increased expression:plasma RGD PMID:18691743 RGD:6483828 NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044
JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II treatment ISO RGD PMID:24769044 RGD:14402034 NCBI chr 2:70,097,424...70,114,460
Ensembl chr 2:70,097,444...70,114,446
JBrowse link
G PTEN phosphatase and tensin homolog exacerbates ISO mRNA:decreased expression:liver (mouse) RGD PMID:31604033 RGD:127285593 NCBI chr14:99,929,590...100,021,619 JBrowse link
G RNASEL ribonuclease L ISO RGD PMID:11861827 RGD:40902828 NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
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 chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
JBrowse link
G SLC10A1 solute carrier family 10 member 1 ISO ClinVar Annotator: match by term: Hepatitis B virus, resistance to ClinVar PMID:14660639 PMID:25418280 PMID:27882152 PMID:28835676 PMID:29658451 NCBI chr 7:93,400,037...93,421,989
Ensembl chr 7:93,397,608...93,421,985
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27444301 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:27312012 RGD:39128205 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:30008718 RGD:15090859 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR3 toll like receptor 3 susceptibility
disease_progression
ISO DNA:SNP, haplotype: rs1879026(human)
DNA:SNPs, haplotype: rs3775291,rs5743305 (human)
RGD PMID:22825813 PMID:30143709 RGD:21079424 RGD:21079431 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
JBrowse link
G TLR9 toll like receptor 9 susceptibility ISO DNA:SNP:exon:2848G>A (rs352140) (human) RGD PMID:25388852 RGD:18337480 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
JBrowse link
G TNF tumor necrosis factor severity
no_association
treatment
ISO DNA:SNPs:promoter:-863C>A, -308A>G (human)
DNA:SNP:promoter:-308G>A (rs1800629) (human)
DNA:SNP:promoter:-857C>T (rs1799724) (human)
RGD PMID:12915457 PMID:27644568 RGD:14975150 RGD:14995438 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ISO protein:increased expression:plasma RGD PMID:27328755 RGD:126925974 NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729
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 6:93,541,334...93,551,200
Ensembl chr 6:93,541,334...93,551,193
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease by infectious agent 2089
      viral infectious disease 1605
        DNA Virus Infections 280
          Hepadnaviridae Infections 119
            hepatitis B + 119
paths to the root