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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:Human Viral Hepatitis
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Accession:DOID:9007329 term browser browse the term
Definition:INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission (HEPATITIS A; HEPATITIS E) or blood transfusion (HEPATITIS B; HEPATITIS C; and HEPATITIS D).
Synonyms:primary_id: MESH:D006525
 alt_id: RDO:0005321
For additional species annotation, visit the Alliance of Genome Resources.


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Human Viral Hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:16115302 RGD:5686674 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Cd163 CD163 molecule ISO associated with human immunodeficiency virus infectious disease, opioid abuse;protein:increased expression:blood plasma (human) RGD PMID:31687981 RGD:149735532 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:1670041 RGD:5688335 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:20939108 RGD:14700885 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G F2 coagulation factor II disease_progression ISO RGD PMID:21805422 RGD:5147782 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) RGD PMID:30109600 RGD:14975142 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO protein:decreased expression:peripheral blood lymphocyte RGD PMID:1325198 RGD:42724465 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
JBrowse link
G Smad4 SMAD family member 4 ISO associated with hepatocellular carcinoma; protein:altered expression:liver RGD PMID:22799322 RGD:21066341 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds:p.R194W, p.R280H (human) RGD PMID:19194663 RGD:15014792 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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
protein:decreased expression:plasma (human)
mRNA, protein:decreased expression:liver, serum (human)
RGD PMID:21726101 PMID:25115832 PMID:27015844 RGD:5508214, RGD:25671433, RGD:25671432 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 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...68,327,365
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 1:227,116,627...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 chr16:67,430,684...67,442,459
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 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...28,903,796
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
treatment
exacerbates
ISO DNA:SNP:intron: (rs2221903) (human)
associated with non-alcoholic fatty liver disease
DNA:SNPs:introns: (rs2221903, rs907715) (human)
protein:increased expression:blood serum (human)
protein:decreased expression:blood serum (human)
RGD PMID:23354321 PMID:31281514 PMID:26840345 PMID:29879024 PMID:25243706 More... RGD:127285353, RGD:127285551, RGD:127285549, RGD:127285539, RGD:127285378, RGD:127285369, RGD:127285364, RGD:127285361 NCBI chr 2:120,119,598...120,126,941
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 5:131,973,897...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:26291078 PMID:29625837 RGD:40400737, RGD:40818237, RGD:39128177 NCBI chr 1:69,614,744...69,622,570 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)
protein:altered expression:serum:
DNA:SNP:exon:
DNA:SNPs::+7146 G>A,+7209 C>T(human)
RGD PMID:30016557 PMID:28983583 PMID:20700634 PMID:25736598 RGD:40818231, RGD:40818415, RGD:40818262, RGD:40818233 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 RT1-Ba RT1 class II, locus Ba treatment
susceptibility
disease_progression
ISO DNA:polymorphisms: :
DNA:polymorphisms: :HLA-DQA1*0101/2/4, HLA-DQA1*0103 (human)
DNA:haplotype::
DNA:polymorphisms: :HLA-DQA1*0303, HLA-DQA1*0505(human)
DNA:polymorphism: :
RGD PMID:27386643 PMID:30168489 PMID:22807686 PMID:16883532 PMID:15237447 More... RGD:14398752, RGD:14398755, RGD:14398843, RGD:14398840, RGD:14398838, RGD:14398759 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
no_association
ISO DNA:polymorphisms (human)
DNA:polymorphism: :HLA-DQB1*07(human)
DNA:SNP: :rs2856718 (human)
DNA:polymorphisms: :multiple
RGD PMID:16893387 PMID:16237774 PMID:28267888 PMID:29287219 RGD:5147637, RGD:36049762, RGD:14974232, RGD:14865012 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 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 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 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...29,659,509
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 treatment
disease_progression
ISO protein:increased expression:serum: RGD PMID:28414577 PMID:25771704 PMID:25337250 RGD:15090812, RGD:15090828, RGD:15090826 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)
protein:increased expression:peripheral blood mononuclear cell (human)
protein: increased expression:peripheral blood mononuclear cell (human)
mRNA, protein:decreased expression:peripheral blood mononuclear cell (human)
DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human)
RGD PMID:24622882 PMID:27126946 PMID:18215354 PMID:19513613 PMID:30453064 RGD:18337464, RGD:18337474, RGD:18337472, RGD:18337470, RGD:18337467 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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
Chronic Hepatitis C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 severity ISO DNA:SNP:introns:(rs3890182, rs1883025) (human) RGD PMID:28164591 RGD:21066337 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 susceptibility
treatment
disease_progression
ISO DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human)
DNA:SNP:cds:c.1331T>C (rs2287622)(human)
RGD PMID:29755014 PMID:29091211 PMID:22681771 RGD:14402415, RGD:14402417, RGD:14402416 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility
treatment
ISO DNA:SNP::2677G>T/A(rs2032582)(human)
DNA:SNP: :3435C>T(human)
RGD PMID:26922556 PMID:29155127 RGD:11574565, RGD:14700907 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Ace angiotensin I converting enzyme treatment ISO
IEP
protein:decreased expression:serum (human) RGD PMID:29641775 PMID:17106926 PMID:27147779 RGD:25671451, RGD:40400711, RGD:25671456 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adar adenosine deaminase, RNA-specific no_association
disease_progression
treatment
ISO DNA:SNP:exon: (rs1127309) (human)
associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human)
DNA:silent mutation:CDS:p.V849V (rs1127309) (human)
DNA:snps, haplotype: (rs7515339, rs903323) (human)
RGD PMID:26911666 PMID:29906476 PMID:19434718 PMID:17979507 RGD:11554370, RGD:125097514, RGD:125097513, RGD:38599150 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:26293833 RGD:14401718 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Aicda activation-induced cytidine deaminase disease_progression ISO mRNA:increased expression:B cell
mRNA, protein:increased expression:B cell, CD19-positive (human)
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD PMID:26219420 PMID:20189883 PMID:26946048 RGD:30296664, RGD:32716380, RGD:32716369 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Ang angiogenin ISO RGD PMID:21848603 RGD:6892709 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Apoe apolipoprotein E severity ISO DNA:polymorphism:exon: RGD PMID:12143056 RGD:7495764 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Aurka aurora kinase A ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RNA:increased expression:liver: RGD PMID:24429361 RGD:14975280 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
treatment
disease_progression
ISO DNA:polymorphism:promoter:-403G>A(human)
DNA:SNPs,haplotype: :
mRNA:increased expression:liver:
DNA:SNP: :rs3817656(human)
RGD PMID:12557141 PMID:15368437 PMID:15770052 PMID:29703961 RGD:14995332, RGD:14995340, RGD:14995336, RGD:14995334 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression
treatment
ISO DNA:deletion:cds: RGD PMID:12055576 PMID:12873822 RGD:14401729, RGD:14401737 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:26554542 RGD:149735574 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd209 CD209 molecule ISO DNA:SNPs,haplotypes:promoter: -939G>A, -871A>G (human) RGD PMID:27348632 RGD:39939007 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
JBrowse link
G Cd226 CD226 molecule treatment ISO RGD PMID:21695691 RGD:40818295 NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051
JBrowse link
G Cd274 CD274 molecule ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:18086898 RGD:41410796 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cldn1 claudin 1 susceptibility ISO
IEP
associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations
mRNA:decreased expression:liver (human)
RGD PMID:19674288 PMID:21412800 RGD:25330352, RGD:26884350 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
JBrowse link
G Clec4m C-type lectin domain family 4 member M disease_progression ISO DNA:polymorphism,repeats:exon4: allele 4 (human) RGD PMID:24283933 RGD:41410818 NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO mRNA, protein:decreased expression:liver hepatocytes (human) RGD PMID:15685545 RGD:5683635 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Crp C-reactive protein ISO RGD PMID:22333691 RGD:6482311 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human) RGD PMID:12696006 RGD:14398739 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:31127759 RGD:27095949 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:polymorphism:promoter: 1260C>A (rs10877012) (human) RGD PMID:21145801 RGD:25671413 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO protein:increased expression:serum: RGD PMID:10435724 RGD:11353781 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
JBrowse link
G Foxp3 forkhead box P3 ISO RGD PMID:18673437 RGD:38548921 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 severity ISO RGD PMID:10934805 RGD:14747019 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:17397002 RGD:14700966 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:17397002 RGD:14700966 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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 mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human) RGD PMID:25605587 RGD:39939081 NCBI chr16:67,430,684...67,442,459
Ensembl chr16:67,430,578...67,442,730
JBrowse link
G Ifna2 interferon alpha 2 treatment ISO associated with end stage renal disease RGD PMID:9187562 PMID:7493300 PMID:19152412 PMID:21272456 PMID:8868074 More... RGD:40886308, RGD:40886318, RGD:40886316, RGD:40886314, RGD:40886313, RGD:40886311, RGD:40886310 NCBI chr 5:103,258,617...103,259,195 JBrowse link
G Ifnl1 interferon, lambda 1 ameliorates ISO protein:increased expression:blood serum (human)
mRNA,protein:increased expression:liver, blood serum (human)
protein:altered expression:blood serum (human)
RGD PMID:30926417 PMID:23071503 PMID:21145813 RGD:126848741, RGD:126848749, RGD:126848747 NCBI chr 1:83,798,651...83,800,297 JBrowse link
G Ifnl3 interferon, lambda 3 treatment
disease_progression
susceptibility
ISO DNA:SNP: :rs8099917 (human)
DNA:SNP:enhancer: (rs8099917) (human)
DNA:SNP,haplotype:enhancer: (rs12979860,rs8099917) (human)
DNA:SNP:enhancer: (rs12979860) (human)
DNA:SNP:enhancer: (rs12979860,rs8099917) (human)
DNA:SNP:5'utr: (rs12979860) (human)
DNA:SNPs:3'utr, enhancer: (rs12980275, rs12979860) (human)
DNA:SNP:3' utr: (rs4803217) (human)
associated with Hemoglobinopathies;DNA:missense mutation, enhancer, haplotype:cds, :p.K70R, (rs12979860) (human)
RGD PMID:23730840 PMID:24355007 PMID:24646752 PMID:28186161 PMID:26741362 More... RGD:10766476, RGD:11096670, RGD:40886292, RGD:40886290, RGD:11344289, RGD:40886281, RGD:40886277, RGD:40822824, RGD:40400891, RGD:14398733, RGD:14398740, RGD:11528556 NCBI chr 1:83,814,456...83,816,096 JBrowse link
G Igf2 insulin-like growth factor 2 severity ISO DNA:SNPs, haplotype:multiple RGD PMID:16750516 RGD:14401723 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Il10 interleukin 10 treatment
no_association
susceptibility
ISO protein:increased expression:serum:
DNA:SNP:promoter: rs3021094, rs3024498 (human)
DNA:SNP:promoter:-592C>A (rs1800872) (human)
DNA:polymorphism:promoter:
RGD PMID:26095186 PMID:25708446 PMID:29247709 PMID:29247709 PMID:26095186 RGD:14700655, RGD:38456002, RGD:14975141, RGD:14975141, RGD:14700655 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il12b interleukin 12B severity ISO DNA:SNP:3' utr:+1188A>C (human) RGD PMID:15871664 RGD:14401721 NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il17d interleukin 17D severity ISO associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human) RGD PMID:27875997 RGD:40903073 NCBI chr15:31,665,795...31,688,840 JBrowse link
G Il18 interleukin 18 treatment
disease_progression
ISO DNA:SNP:promoter:-607C>A (rs1946518)(human) RGD PMID:25198668 PMID:19740312 RGD:14696651, RGD:14696656 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:12673448 RGD:14807336 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21 interleukin 21 ameliorates ISO protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human) RGD PMID:24170093 RGD:127285373 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il27 interleukin 27 ameliorates ISO DNA:SNP:promoter:-964A>G (rs153109) (human) RGD PMID:27221901 RGD:126790538 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
JBrowse link
G Il4 interleukin 4 treatment ISO DNA:SNPs:promoter:-590C>T,-33T>C (human)
associated with factor VIII deficiency;protein:increased expression:serum:
RGD PMID:22594992 PMID:25708446 PMID:23591975 RGD:14696678, RGD:38456002, RGD:14696686 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 treatment ISO DNA:SNPs:promoter:rs1800795 (human) RGD PMID:27812403 RGD:14975294 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Isg15 ISG15 ubiquitin-like modifier treatment ISO RGD PMID:28036111 RGD:40400915 NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
JBrowse link
G Itgb6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18221819 NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
JBrowse link
G Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 severity ISO protein:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human) RGD PMID:19470388 PMID:27239111 RGD:38676473, RGD:38676476 NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
JBrowse link
G Klrc1 killer cell lectin like receptor C1 treatment ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:16322112 PMID:31218578 PMID:20550548 RGD:40818296, RGD:40400920, RGD:40818079 NCBI chr 4:163,142,142...163,152,425
Ensembl chr 4:163,147,189...163,152,425
JBrowse link
G Klrk1 killer cell lectin like receptor K1 treatment
disease_progression
ISO protein:decreased expression:liver,natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD PMID:25965701 PMID:25148254 PMID:21168454 RGD:39018562, RGD:40813739, RGD:40400738 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
JBrowse link
G Krt18 keratin 18 disease_progression
severity
ISO protein:increased expression:serum (human)
protein:increased expression:liver, serum (human)
protein:increased degradation:serum (human)
RGD PMID:30839434 PMID:23820504 PMID:22404726 PMID:19333204 RGD:18337481, RGD:18337500, RGD:18337496, RGD:18337493 NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
JBrowse link
G Krt8 keratin 8 ISO protein:increased phosphorylation:liver (human) RGD PMID:15368451 RGD:14401583 NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
JBrowse link
G Lep leptin IEP protein:altered localization:serum (human) RGD PMID:11336170 RGD:21201249 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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 Lgals3 galectin 3 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO DNA:SNPs:promoter,exon:
DNA:haplotype:promoter, exon:
RGD PMID:18336595 PMID:25956563 RGD:14696820, RGD:11076743 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mir107 microRNA 107 ISO RNA:decreased expression:liver: RGD PMID:24429361 RGD:14975280 NCBI chr 1:232,337,767...232,337,853
Ensembl chr 1:232,337,767...232,337,853
JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:24895202 RGD:14401602 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Mir146a microRNA 146a ISO miRNA:increased expression:liver (human)
miRNA:increased expression:peripheral blood mononuclear cell (mouse)
RGD PMID:27147737 PMID:25877355 RGD:126925147, RGD:126925186 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum
associated with rheumatoid arthritis
RGD PMID:30852102 PMID:29575671 RGD:21079478, RGD:21403686 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir223 microRNA 223 treatment ISO RGD PMID:28864162 RGD:21408567 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mx1 MX dynamin like GTPase 1 treatment
exacerbates
IEP
ISO
DNA:SNPs:promoter:g.-123C>A, -88G>T(human)
DNA:SNPs:promoter: (rs2071430, rs17000900) (human)
RGD PMID:28036111 PMID:25239021 PMID:29271328 RGD:40400915, RGD:11067846, RGD:126777679 NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 treatment
disease_progression
ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:liver, natural killer cell (human)
RGD PMID:31218578 PMID:23813131 PMID:16322112 PMID:21695691 PMID:20550548 More... RGD:40400920, RGD:40818297, RGD:40818296, RGD:40818295, RGD:40818079, RGD:40813739, RGD:40400738 NCBI chr 1:69,614,744...69,622,570 JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 disease_progression
treatment
ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD PMID:21168454 PMID:23813131 PMID:16322112 PMID:21695691 PMID:20550548 RGD:40400738, RGD:40818297, RGD:40818296, RGD:40818295, RGD:40818079 NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 disease_progression ISO DNA:insertion:promoter: -94insATTG (rs28362491) (human) RGD PMID:26827631 RGD:11572306 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:19628656 RGD:6483809 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO
IEP
mRNA, protein:decreased expression:liver hepatocytes (human)
associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human)
RGD PMID:15685545 PMID:15685545 RGD:5683635, RGD:5683635 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Prdx5 peroxiredoxin 5 ISO mRNA:decreased expression:liver, blood (human) RGD PMID:32103340 RGD:41404682 NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
JBrowse link
G Prf1 perforin 1 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25148254 RGD:40813739 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: :HLA DQA1*03(human)
DNA:polymorphism:haplotype:
RGD PMID:8938158 PMID:9537846 RGD:14398842, RGD:14401559 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb disease_progression ISO DNA:polymorphism:cds:HLA-DQB1*02 (human) RGD PMID:17489060 RGD:36174022 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 disease_progression ISO DNA:polymorphism (human)
DNA:polymorphisms:cds:HLA-DRB1*030101, DRB1*0701(human)
RGD PMID:18925312 PMID:17489060 RGD:5147618, RGD:36174022 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-Ha RT1 class II, locus Ha disease_progression ISO DNA:SNP, haplotype: :rs3077, rs9277534(human) RGD PMID:24897020 RGD:14694819 NCBI chr20:4,760,631...4,770,662 JBrowse link
G Slc11a1 solute carrier family 11 member 1 disease_progression ISO DNA:polymorphisms, haplotype:promoter (human) RGD PMID:14960532 RGD:5684961 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Slc6a4 solute carrier family 6 member 4 susceptibility ISO associated with alexithymia;DNA:haplotypes, multiple: RGD PMID:26609890 RGD:11352995 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
JBrowse link
G Smad4 SMAD family member 4 ISO protein:increased expression:liver: RGD PMID:29924446 RGD:21066342 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Spp1 secreted phosphoprotein 1 treatment ISO DNA:SNPs:promoter:-443C>T, -1748G>A (human) RGD PMID:15868370 RGD:1581374 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Stat3 signal transducer and activator of transcription 3 severity ISO RGD PMID:17318196 RGD:8694293 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tlr3 toll-like receptor 3 treatment
severity
disease_progression
susceptibility
ISO DNA:SNP:cds:p.Leu412Phe(human)
DNA:SNP: :rs13126816 (human)
DNA:SNP: :rs3775290(human)
treatment:peginterferon plus ribavirin.
RGD PMID:23240626 PMID:28480979 PMID:23220997 PMID:29860675 PMID:30321082 More... RGD:21079422, RGD:21079435, RGD:21079430, RGD:21079428, RGD:21079427, RGD:21079423 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:SNP: :rs2148356(human)
protein:increased expression:serum:
RGD PMID:26095186 PMID:26095186 RGD:14700655, RGD:14700655 NCBI chr 5:80,145,867...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:peripheral blood mononuclear cell (human)
protein:increased expression:liver, peripheral blood mononuclear cell (human)
RGD PMID:19513613 PMID:23026026 RGD:18337470, RGD:18337477 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor treatment
severity
ISO protein:increased expression:serum (human)
protein:increased expression:plasma (human)
RGD PMID:9047083 PMID:25708446 PMID:9440625 RGD:14995307, RGD:38456002, RGD:14995439 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO RGD PMID:21152182 RGD:8661764 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Usp18 ubiquitin specific peptidase 18 treatment ISO RGD PMID:28036111 RGD:40400915 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
JBrowse link
G Vdr vitamin D receptor treatment
no_association
ISO DNA:polymorphism: : RGD PMID:27263300 PMID:26725771 RGD:14401746, RGD:14401749 NCBI chr 7:128,987,981...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:cds:p.R194W, p.R280H, p.R399Q (human) RGD PMID:29935355 RGD:15036797 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 severity ISO protein:increased expression:liver (human) RGD PMID:21739451 PMID:25225661 RGD:39938976, RGD:39938960 NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
JBrowse link
hepatitis A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:insertion/deletion:intron 16: RGD PMID:12458570 RGD:39939119 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 disease_progression ISO RGD PMID:26347518 RGD:40818419 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Pdcd1 programmed cell death 1 disease_progression ISO RGD PMID:26347518 RGD:40818419 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds:p.R194W (rs1799782) (human)
DNA:SNP:intron: (rs1001581) (human)
RGD PMID:22135187 PMID:29558945 RGD:15014793, RGD:15036793 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Ca9 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 chr10:68,466,469...68,467,941
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...68,327,365
Ensembl chr10:68,322,829...68,327,377
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 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 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 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 susceptibility ISO ClinVar Annotator: match by term: Hepatitis b virus, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16757563 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 5:103,020,969...103,021,523
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 susceptibility ISO ClinVar Annotator: match by OMIM:610424
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12516030 PMID:16690980 PMID:19488747 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 susceptibility ISO ClinVar Annotator: match by term: Hepatitis b virus, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16757563 PMID:24033266 PMID:28492532 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 2:120,119,598...120,126,941
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 chr18:45,964,311...46,041,477
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 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 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 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 5:131,973,897...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 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 1:80,053,441...80,068,384
Ensembl chr 1:80,050,324...80,068,595
JBrowse link
G Prkcsh protein kinase C substrate 80K-H 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 1:230,631,303...230,696,754
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 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 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 JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 susceptibility ISO DNA:SNP: : rs2070959(human) RGD PMID:29239247 RGD:14401574 NCBI chr 9:88,747,229...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
hepatitis C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afp alpha-fetoprotein treatment ISO RGD PMID:25914481 RGD:126790581 NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
JBrowse link
G Apoa1 apolipoprotein A1 severity ISO associated with liver cirrhosis; protein:decreased expression:serum (human) RGD PMID:19818291 RGD:25671441 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility ISO associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human) RGD PMID:27304910 RGD:14401735 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 susceptibility
no_association
ISO ClinVar Annotator: match by term: HCV, RESISTANCE TO
DNA:deletion:cds:
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... RGD:14401735, RGD:14401731 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd209 CD209 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
JBrowse link
G Cd274 CD274 molecule ISO protein:increased expression:dendritic cell RGD PMID:20513078 RGD:41410799 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cd81 Cd81 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517063 NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 disease_progression
treatment
ISO protein:increased expression:serum RGD PMID:18775023 PMID:24668726 PMID:25512630 RGD:27095893, RGD:27095945, RGD:27095943 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8864187 NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052
JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8864187 NCBI chr12:9,207,986...9,230,038
Ensembl chr12:9,015,383...9,285,008
JBrowse link
G Ddx58 DEXD/H-box helicase 58 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170495 NCBI chr 5:55,321,229...55,369,947
Ensembl chr 5:55,321,235...55,370,819
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:28129465 RGD:40818432 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17414718 RGD:38456005 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Grap2 GRB2-related adaptor protein 2 severity ISO DNA:SNP:intron: (human) RGD PMID:15063762 RGD:126790487 NCBI chr 7:112,117,142...112,190,880
Ensembl chr 7:112,117,142...112,190,877
JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15865084 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 resistance ISO RGD PMID:21756311 RGD:5147491 NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
JBrowse link
G Ifng interferon gamma susceptibility ISO ClinVar Annotator: match by synonym: Hepatitis C virus infection, response to therapy of
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:17215375 PMID:17553896 RGD:40400745 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ifnl1 interferon, lambda 1 ISO DNA:missense mutation, haplotype:exon (rs30461) (human) RGD PMID:24269996 RGD:126848746 NCBI chr 1:83,798,651...83,800,297 JBrowse link
G Ifnl3 interferon, lambda 3 treatment
susceptibility
disease_progression
ISO associated with inherited blood coagulation disease;DNA:SNP:enhancer: (rs12979860) (human)
CTD Direct Evidence: marker/mechanism
associated with Beta-Thalassemia;DNA:SNPs:enhancers: (rs12979860, rs4803221, rs8099917) (human)
CTD
OMIM
PMID:24522196 PMID:25864220 RGD:11528544, RGD:11528545 NCBI chr 1:83,814,456...83,816,096 JBrowse link
G Il10 interleukin 10 no_association ISO protein:increased expression:serum
DNA:SNPs: :multiple
DNA:SNPs: :rs1800896 (human)
RGD PMID:19302182 PMID:28340949 PMID:28340949 RGD:2308942, RGD:14975144, RGD:14975144 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il12a interleukin 12A susceptibility
disease_progression
ISO DNA:SNP:3'UTR: rs568408( G>A)(human)
associated with diabetes mellitus;
RGD PMID:27819525 PMID:30243010 RGD:25440490, RGD:25440502 NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
JBrowse link
G Il13 interleukin 13 disease_progression ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD PMID:17553896 PMID:17553896 RGD:40400745, RGD:40400745 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il18 interleukin 18 disease_progression
susceptibility
treatment
ISO DNA:SNPs:promoter:-607C>A, -137G>C(human)
DNA:SNP:promoter:-607C>A (rs1946518)(human)
protein:increased expression:serum:
DNA:SNPs:promoter:-137G>C,-607C>A(human)
RGD PMID:18781864 PMID:21984735 PMID:26486291 PMID:27927859 PMID:19455410 RGD:14695527, RGD:14696657, RGD:14696654, RGD:14696653, RGD:14695530 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta ISO associated with Glomerulonephritis; protein:increased expression:serum (human) RGD PMID:21623661 RGD:7175316 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:17553896 RGD:40400745 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il4 interleukin 4 susceptibility ISO DNA:SNP:promoter:-589C>T (human)
protein:decreased expression:serum
RGD PMID:28368861 PMID:28368861 RGD:14696680, RGD:14696680 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 no_association ISO DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human)
DNA:SNPs: :multiple
RGD PMID:28340949 PMID:28340949 RGD:14975144, RGD:14975144 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irf5 interferon regulatory factor 5 treatment ISO mRNA:increased expression:liver RGD PMID:27942586 PMID:28259968 RGD:40924562, RGD:40924642 NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
JBrowse link
G Irf9 interferon regulatory factor 9 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
JBrowse link
G Itpa inosine triphosphatase disease_progression ISO DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) RGD PMID:24519039 RGD:10766473 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 susceptibility ISO DNA:deletion:cds RGD PMID:28225833 RGD:38676472 NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
JBrowse link
G Klrc1 killer cell lectin like receptor C1 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer c RGD PMID:17553896 RGD:40400745 NCBI chr 4:163,142,142...163,152,425
Ensembl chr 4:163,147,189...163,152,425
JBrowse link
G Klrk1 killer cell lectin like receptor K1 disease_progression ISO mRNA:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
associated with HIV Seropositivity;protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD PMID:26518141 PMID:27091211 PMID:27091211 RGD:11553576, RGD:40818300, RGD:40818300 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
JBrowse link
G Krt8 keratin 8 ISO ClinVar Annotator: match by term: Hepatitis c virus, susceptibility to
ClinVar Annotator: match by term: Susceptibility to hepatitis C virus
ClinVar PMID:11372009 PMID:15090596 PMID:25741868 PMID:28492532 NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
JBrowse link
G Ldlr low density lipoprotein receptor disease_progression ISO DNA:polymorphisms:exon, 3' utr (human) RGD PMID:12209363 RGD:5490246 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:45,964,311...46,041,477
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 Lpl lipoprotein lipase ISO CTD Direct Evidence: therapeutic CTD PMID:17517063 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:exon:
DNA:SNPs, haplotype:promoter, exon:
RGD PMID:19703233 PMID:20570631 RGD:14696815, RGD:14696832 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mir146a microRNA 146a exacerbates ISO miRNA:increased expression:blood serum (human) RGD PMID:28587864 RGD:126925170 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir181c microRNA 181c IEP miRNA:decreased expression:liver (human) RGD PMID:24789793 RGD:15042895 NCBI chr19:23,983,523...23,983,628
Ensembl chr19:23,983,523...23,983,628
JBrowse link
G Mir21 microRNA 21 disease_progression ISO RNA:increased expression:liver RGD PMID:30938910 PMID:20625373 RGD:41404662, RGD:41404667 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO mRNA:decreased expression:liver (human) RGD PMID:23157389 RGD:126925755 NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA,protein:increased expression:liver RGD PMID:23108410 RGD:14695017 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:17553896 RGD:40400745 NCBI chr 1:69,614,744...69,622,570 JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:17553896 RGD:40400745 NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
JBrowse link
G Nfkbia NFKB inhibitor alpha susceptibility ISO DNA:deletion:promoter: (rs28362491) (human) RGD PMID:30056167 RGD:40902826 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12937158 PMID:17299060 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
JBrowse link
G Pdcd1 programmed cell death 1 disease_progression ISO DNA:SNP:3' UTR:rs10204525(human) RGD PMID:25747035 RGD:11052797 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Ppia peptidylprolyl isomerase A ameliorates ISO RGD PMID:23903655 RGD:150429630 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C susceptibility ISO ClinVar Annotator: match by OMIM:609532
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7621884 PMID:11101853 PMID:11528386 PMID:11548742 PMID:11841494 More... NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
JBrowse link
G Ptx3 pentraxin 3 severity ISO protein:increased expression:plasma (human) RGD PMID:26400151 RGD:11554449 NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
JBrowse link
G RT1-Ba RT1 class II, locus Ba disease_progression ISO associated with thalassemia;DNA:polymorphism, haplotype: : RGD PMID:29248968 PMID:25970464 RGD:14398753, RGD:14401560 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility
disease_progression
ISO associated with Beta-Thalassemia
DNA:polymorphism:cds:HLA-DQB1*03, *0501 (human)
RGD PMID:21535077 PMID:22155912 PMID:27599887 PMID:27340680 RGD:40902997, RGD:11041750, RGD:14928327, RGD:14928326 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*11 (human) RGD PMID:21535077 RGD:40902997 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 ISO RGD PMID:19775370 RGD:5144114 NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
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 Scarb1 scavenger receptor class B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517063 NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr 9:49,419,561...49,459,969 JBrowse link
G Stat2 signal transducer and activator of transcription 2 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:24634940 RGD:14696782 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tlr3 toll-like receptor 3 disease_progression
severity
susceptibility
ISO associated with glomerulonephritis;mRNA:increased expression:liver:
DNA:SNPs: :rs3775290,rs3775291,rs5743312 (human)
associated with liver transplant;DNP:SNP:cds:p.Leu412Phe(human)
DNA:SNP:cds:p.Leu412Phe(human)
RGD PMID:21623661 PMID:29947302 PMID:27101936 PMID:23240626 RGD:7175316, RGD:21079437, RGD:21079429, RGD:21079422 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr7 toll-like receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link
G Tlr8 toll-like receptor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549
JBrowse link
G Tlr9 toll-like receptor 9 susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human)
associated with psoriasis;mRNA:increased expession:skin (human)
RGD PMID:28062211 PMID:27184185 RGD:18337466, RGD:18337479 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease by infectious agent 1916
      viral infectious disease 1569
        viral hepatitis 191
          Human Viral Hepatitis 188
            Epstein-Barr virus hepatitis 0
            hepatitis A 5
            hepatitis B + 114
            hepatitis C + 130
            hepatitis D + 0
            hepatitis E 0
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      gastrointestinal system disease 6061
        hepatobiliary disease 2559
          liver disease 2462
            hepatitis 271
              viral hepatitis 191
                Human Viral Hepatitis 188
                  Epstein-Barr virus hepatitis 0
                  hepatitis A 5
                  hepatitis B + 114
                  hepatitis C + 130
                  hepatitis D + 0
                  hepatitis E 0
paths to the root