RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: hepatitis B
Accession: DOID:2043
browse the term
Definition: A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice. (DO)
Synonyms: exact_synonym: hepatitis B infection; hepatitis B virus infection
related_synonym: HBV, resistance to; HBV, susceptibility to; hepatitis B virus, resistance to; hepatitis B virus, susceptibility to; serum hepatitis
xref: EFO:0004197 ; MESH:D006509 ; MIM:610424 ; MONDO:0005344 ; NCI:C3097
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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Car9
carbonic anhydrase 9
disease_progression
ISO
DNA:SNP::rs2071676(human)
RGD
PMID:32297155
RGD:40903057
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:21914058
RGD:5683873
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccl5
C-C motif chemokine ligand 5
disease_progression susceptibility
ISO
DNA:polymorphisms:promoter:-403G>A,-28C>G (human) DNA:polymorphisms: :
RGD
PMID:30536991 PMID:23336202 PMID:22576913 PMID:19017985
RGD:14401739 , RGD:14995331 , RGD:14995330 , RGD:14995327
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccnd2
cyclin D2
disease_progression
ISO
mRNA:decreased expression:Peripheral Blood Mononuclear Cell DNA:SNP, haplotype:exon :rs1049606(human)
RGD
PMID:33320844 PMID:20414251
RGD:151664743 , RGD:151664744
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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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
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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
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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
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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
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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
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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
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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
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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
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Eftud2
elongation factor Tu GTP binding domain containing 2
susceptibility
ISO
RGD
PMID:34436958
RGD:155791665
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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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
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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
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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
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Fbxo11
F-box protein 11
ISO
associated with hepatocellular carcinoma;protein:increased expression:liver (human)
RGD
PMID:29603830
RGD:152025266
NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
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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
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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
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Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15504288
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Ifna2
interferon alpha 2
treatment
ISO
RGD
PMID:8509638
RGD:21406432
NCBI chr 5:103,258,617...103,259,195
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Ifnar2
interferon alpha and beta receptor subunit 2
susceptibility
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16757563 PMID:25741868 PMID:28492532
NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
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Ifnb1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15994231
NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
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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
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Ifngr1
interferon gamma receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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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
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Il10rb
interleukin 10 receptor subunit beta
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16757563 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29248579
NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
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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
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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
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Il21
interleukin 21
ISO
mRNA:increased expression:spleen (C57BL/6N mouse)
RGD
PMID:29544722
RGD:127285375
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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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
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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
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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
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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
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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
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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
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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
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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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
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Map4k4
mitogen-activated protein kinase kinase kinase kinase 4
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human)
RGD
PMID:21196414
RGD:151347673
NCBI chr 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698
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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
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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
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Mir122
microRNA 122
severity
ISO
CTD Direct Evidence: marker/mechanism miRNA:decreased expression:liver
CTD RGD
PMID:28545106 PMID:22105316
RGD:14401605
NCBI chr18:58,758,703...58,758,787
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Mir125b2
microRNA 125b-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:16,245,620...16,245,707
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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
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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
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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
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Mir190
microRNA 190
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 8:67,850,987...67,851,071
Ensembl chr 8:67,850,987...67,851,071
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:23157389
RGD:126925755
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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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
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
associated with hepatocellular carcinoma;protein:decreased expression:liver (human)
RGD
PMID:28370778
RGD:150520169
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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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
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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
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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
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Plaur
plasminogen activator, urokinase receptor
severity
ISO
protein:increased expression:plasma
RGD
PMID:18691743
RGD:6483828
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)
RGD
PMID:25151370
RGD:151665185
NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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Prkcsh
PRKCSH beta subunit of glucosidase II
treatment
ISO
RGD
PMID:24769044
RGD:14402034
NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
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Pten
phosphatase and tensin homolog
exacerbates
ISO
mRNA:decreased expression:liver (mouse)
RGD
PMID:31604033
RGD:127285593
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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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
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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
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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
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RT1-Ha
RT1 class II, locus Ha
disease_progression
ISO
DNA:SNP: :rs3077(human)
RGD
PMID:27051043
RGD:14694816
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
severity susceptibility treatment disease_progression
ISO
DNA:SNPs, haplotype:3' utr:multiple (human) DNA:SNP: :rs9277535(human) DNA:SNP: :rs7770370(human) DNA:polymorphisms:3-UTR:rs9277534(human)
RGD
PMID:22496224 PMID:26197724 PMID:27051043 PMID:27083422
RGD:11553629 RGD:14694816 RGD:14694820 RGD:14694821
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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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
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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:25741868 PMID:27882152 PMID:28835676 PMID:29658451 More...
NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
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Stat4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27444301
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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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
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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
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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
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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
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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
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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
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
susceptibility
ISO
DNA:SNP: : rs8175347(human)
RGD
PMID:29239247
RGD:14401574
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a6
UDP glucuronosyltransferase family 1 member A6
susceptibility
ISO
DNA:SNP: : rs2070959(human)
RGD
PMID:29239247
RGD:14401574
NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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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
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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
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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
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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
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Apoa1
apolipoprotein A1
ISO
protein:decreased expression mRNA, protein:decreased expression:liver, serum (human) protein:decreased expression:plasma (human)
RGD
PMID:21726101 PMID:27015844 PMID:25115832
RGD:5508214 , RGD:25671432 , RGD:25671433
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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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
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Birc3
baculoviral IAP repeat-containing 3
ameliorates
ISO
RGD
PMID:25902529
RGD:152998939
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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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
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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
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Ccl5
C-C motif chemokine ligand 5
severity
ISO
RGD
PMID:17711627
RGD:14995339
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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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
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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
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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
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Cd274
CD274 molecule
treatment
ISO
protein:increased expression:regulatory T cell
RGD
PMID:26266813 PMID:20460044
RGD:11344683 , RGD:41412166
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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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
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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
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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
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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
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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
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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
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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
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
protein:increased expression:serum (human)
RGD
PMID:28465467
RGD:39939037
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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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
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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
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Ifnl1
interferon, lambda 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21957142
RGD:126848748
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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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
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Il12b
interleukin 12B
susceptibility
ISO
DNA:SNP:3'utr: (rs3212227)
RGD
PMID:25469587
RGD:11074616
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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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
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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
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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
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Il21
interleukin 21
susceptibility exacerbates treatment
ISO
DNA:SNP:intron: (rs2221903) (human) protein:decreased expression:blood serum (human) protein:increased expression:blood serum (human) DNA:SNPs:introns: (rs2221903, rs907715) (human) associated with non-alcoholic fatty liver disease
RGD
PMID:23354321 PMID:28500636 PMID:30260401 PMID:32373234 PMID:25243706 PMID:29879024 PMID:26840345 PMID:31281514 More...
RGD:127285353 , RGD:127285361 , RGD:127285364 , RGD:127285369 , RGD:127285378 , RGD:127285539 , RGD:127285549 , RGD:127285551
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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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
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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
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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
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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
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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
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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
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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
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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 Ensembl chr10:133,157,475...133,161,166
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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
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Mbl2
mannose binding lectin 2
severity
ISO
DNA:haplotype: :
RGD
PMID:27824315
RGD:14696831
NCBI chr 1:228,016,439...228,024,736
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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
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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
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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
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28871230
RGD:150340590
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Ncr1
natural cytotoxicity triggering receptor 1
severity disease_progression
ISO
protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:Peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:28328926 PMID:29625837 PMID:26291078
RGD:40400737 , RGD:39128177 , RGD:40818237
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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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
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Pdcd1
programmed cell death 1
disease_progression no_association
ISO
DNA:SNP:3' UTR:rs10204525(human) DNA:SNPs::+7146 G>A,+7209 C>T(human) DNA:SNP:exon: protein:altered expression:serum:
RGD
PMID:30016557 PMID:25736598 PMID:20700634 PMID:28983583
RGD:40818231 , RGD:40818233 , RGD:40818262 , RGD:40818415
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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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
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:31100710
RGD:150530465
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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RT1-Ba
RT1 class II, locus Ba
treatment susceptibility disease_progression
ISO
DNA:polymorphisms: : DNA:polymorphism: : DNA:polymorphisms: :HLA-DQA1*0303, HLA-DQA1*0505(human) DNA:haplotype:: DNA:polymorphisms: :HLA-DQA1*0101/2/4, HLA-DQA1*0103 (human)
RGD
PMID:27386643 PMID:14562382 PMID:15237447 PMID:16883532 PMID:22807686 PMID:30168489 More...
RGD:14398752 , RGD:14398759 , RGD:14398838 , RGD:14398840 , RGD:14398843 , RGD:14398755
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
no_association treatment
ISO
DNA:polymorphisms (human) DNA:polymorphisms: :multiple DNA:SNP: :rs2856718 (human) DNA:polymorphism: :HLA-DQB1*07(human)
RGD
PMID:16893387 PMID:29287219 PMID:28267888 PMID:16237774
RGD:5147637 , RGD:14865012 , RGD:14974232 , RGD:36049762
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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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
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RT1-Ha
RT1 class II, locus Ha
susceptibility disease_progression treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3077(human) mRNA:decreased expression:peripheral blood mononuclear cell: DNA:polymorphism::HLA-DPA1*04:01(human)
CTD RGD
PMID:19349983 PMID:30267609 PMID:30267609 PMID:28275747 PMID:29300980
RGD:14694817 , RGD:14694817 , RGD:14694818 , RGD:14694973
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
treatment susceptibility severity
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :(human) DNA:SNP: :rs33054861(human) DNA:polymorphism:exon, 3' utr: (rs9277535) (human) DNA:polymorphisms:multiple (human) DNA:polymorphisms, haplotypes:multiple (human) DNA:SNP:exon, 3' utr: (rs9277542) (human) DNA:SNPs:multiple (human) DNA:SNP:exon 6: (rs9277542) (human)
CTD RGD
PMID:19349983 PMID:21274863 PMID:21310144 PMID:22737229 PMID:24520320 PMID:25109699 PMID:26449183 PMID:27051043 PMID:28267888 More...
RGD:11536957 RGD:14694816 RGD:14974232 RGD:150429660 RGD:150429794 RGD:150429799 RGD:150429802 RGD:150429807 RGD:150429808
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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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
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNPs, haplotypes:multiple
RGD
PMID:25829184
RGD:25671420
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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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
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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
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Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNP, haplotype: :rs10069690,rs2242652(human)
RGD
PMID:29507683
RGD:14696786
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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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
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Tlr2
toll-like receptor 2
disease_progression treatment
ISO
protein:increased expression:serum:
RGD
PMID:28414577 PMID:25337250 PMID:25771704
RGD:15090812 , RGD:15090826 , RGD:15090828
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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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
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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
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Tlr9
toll-like receptor 9
severity
ISO
mRNA, protein: decreased expression:liver, CD14-positive monocyte (human) DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human) mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) protein: increased expression:peripheral blood mononuclear cell (human) protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:24622882 PMID:30453064 PMID:19513613 PMID:18215354 PMID:27126946
RGD:18337464 , RGD:18337467 , RGD:18337470 , RGD:18337472 , RGD:18337474
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnfaip3
TNF alpha induced protein 3
susceptibility
ISO
DNA:SNP,haplotypes: (rs148314165, rs200820567) (human)
RGD
PMID:28784141
RGD:151347613
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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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
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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
G
Zfhx3
zinc finger homeobox 3
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20534899
RGD:151361169
NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all