RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Hepadnaviridae Infections
Accession: DOID:9004126
browse the term
Definition: Virus diseases caused by the HEPADNAVIRIDAE.
Synonyms: exact_synonym: Hepadnaviridae Infection; Hepadnaviridae infectious disease
primary_id: MESH:D018347 ; RDO:0005778
xref: EFO:0007301
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ADAR
adenosine deaminase RNA specific
treatment
ISO
DNA:SNP:enhancer: (rs4845384) (human)
RGD
PMID:24351124
RGD:125097515
NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304
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APOA1
apolipoprotein A1
ISO
mRNA, protein:decreased expression:liver, serum (human) protein:decreased expression:plasma (human)
RGD
PMID:21726101 PMID:25115832 PMID:27015844
RGD:25671432 RGD:25671433 RGD:5508214
NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
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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 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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BIRC3
baculoviral IAP repeat containing 3
ameliorates
ISO
RGD
PMID:25902529
RGD:152998939
NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,003,276...33,020,242
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C2
complement C2
susceptibility
ISO
DNA:SNP:exon: p.Glu318Asp (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,033,930
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CCL2
chemokine (C-C motif) ligand 2
ISO
protein:decreased expression:serum:
RGD
PMID:26281331
RGD:14995947
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL5
C-C motif chemokine ligand 5
severity
ISO
RGD
PMID:17711627
RGD:14995339
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17657819
NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
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CD163
CD163 molecule
ISO
protein:increased expression:blood serum (human)
RGD
PMID:26339412
RGD:11251207
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CD1D
CD1d molecule
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)
RGD
PMID:29643189
RGD:127345114
NCBI chr 4:92,096,670...92,101,177
Ensembl chr 4:92,094,700...92,101,095
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CD274
CD274 molecule
treatment
ISO
protein:increased expression:regulatory T cell
RGD
PMID:20460044 PMID:26266813
RGD:11344683 RGD:41412166
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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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 1:224,960,875...225,042,378
Ensembl chr 1:224,960,875...225,042,308
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CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNP: :-318C>T(human)
RGD
PMID:16489681
RGD:14398727
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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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:18234638 PMID:30660173
RGD:27095888 RGD:27095951
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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CXCL8
C-X-C motif chemokine ligand 8
severity
ISO
mRNA, protein:increased expression:serum, peripheral blood mononuclear cell (human) associated with liver disease;mRNA, protein:increased expression:liver, blood serum (human)
RGD
PMID:23890815 PMID:26265888
RGD:11075958 RGD:150520196
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
RGD
PMID:26234401
RGD:32716425
NCBI chr 3:57,423,894...57,506,247
Ensembl chr 3:57,423,943...57,506,245
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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:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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HP
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 6:14,980,382...14,985,245
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
protein:increased expression:serum (human)
RGD
PMID:28465467
RGD:39939037
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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IFNG
interferon gamma
ISO
protein:decreased expression:serum (human)
RGD
PMID:26684441 PMID:28465467
RGD:14974255 RGD:39939037
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL12A
interleukin 12A
ISO
mRNA:increased expression:liver
RGD
PMID:26062743
RGD:11097839
NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078
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IL12B
interleukin 12B
susceptibility
ISO
DNA:SNP:3'utr: (rs3212227)
RGD
PMID:25469587
RGD:11074616
NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
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IL18
interleukin 18
disease_progression
ISO
DNA:SNP:promoter:-607C>A(human)
RGD
PMID:27470888
RGD:14696663
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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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 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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IL2
interleukin 2
susceptibility
ISO
DNA:polymorphism:promoter:-385T>G(human)
RGD
PMID:19105930
RGD:14747034
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL21
interleukin 21
treatment exacerbates susceptibility
ISO
protein:increased expression:blood serum (human) protein:decreased expression:blood serum (human) associated with non-alcoholic fatty liver disease DNA:SNPs:introns: (rs2221903, rs907715) (human) DNA:SNP:intron: (rs2221903) (human)
RGD
PMID:23354321 PMID:25243706 PMID:26840345 PMID:28500636 PMID:29879024 PMID:30260401 PMID:31281514 PMID:32373234 More...
RGD:127285353 RGD:127285361 RGD:127285364 RGD:127285369 RGD:127285378 RGD:127285539 RGD:127285549 RGD:127285551
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL29
interleukin 29 (interferon, lambda 1)
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21957142
RGD:126848748
NCBI chr17:51,484,658...51,485,233
Ensembl chr17:51,484,658...51,485,233
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IL33
interleukin 33
severity treatment
ISO
RGD
PMID:25714983 PMID:27180842
RGD:39457933 RGD:39938954
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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IL4
interleukin 4
treatment disease_progression
ISO
DNA:SNP:promoter:-590C>T (human)
RGD
PMID:21331994 PMID:26281177
RGD:14696675 RGD:14696697
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:serum
RGD
PMID:24836184
RGD:40903002
NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
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JAK1
Janus kinase 1
disease_progression
ISO
DNA:SNPs: :rs4244165, rs17127024 (human)
RGD
PMID:22901011
RGD:19165132
NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182
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KEAP1
kelch like ECH associated protein 1
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:22459801
RGD:6892954
NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382
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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 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
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KRT18
keratin 18
severity disease_progression
ISO
protein:increased degradation:serum (human) protein:increased phosphorylation:liver (human)
RGD
PMID:20334631 PMID:28579343
RGD:18337487 RGD:18337494
NCBI chr 5:18,217,686...18,221,432
Ensembl chr 5:18,217,691...18,221,429
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LEPR
leptin receptor
ISO
mRNA:altered expression:liver, peripheral blood mononuclear cell
RGD
PMID:17060687
RGD:21079470
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
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LOC100523789
NKG2-A/NKG2-B type II integral membrane protein
severity
ISO
protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:28328926
RGD:40400737
NCBI chr 5:61,621,869...61,633,693
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LOC102161030
interferon lambda-4
severity disease_progression
ISO
DNA:SNP:5'utr: (rs12979860) (human) DNA:frameshift mutation,substitution:5'utr: p.P70S (rs368234815, rs117648444)
RGD
PMID:25740255 PMID:28732143
RGD:40400752 RGD:40886279
NCBI chr 6:47,946,679...47,948,710
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MBL2
mannose binding lectin 2
severity
ISO
DNA:haplotype: :
RGD
PMID:27824315
RGD:14696831
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MIR155
microRNA mir-155
ISO
RGD
PMID:30735455
RGD:21081537
NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
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MIR885
microRNA mir-885
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27738331
NCBI chr13:66,597,531...66,597,610
Ensembl chr13:66,597,531...66,597,610
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MPL
MPL proto-oncogene, thrombopoietin receptor
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28871230
RGD:150340590
NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625
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NCR1
natural cytotoxicity triggering receptor 1
severity disease_progression
ISO
protein:decreased expression:Peripheral blood mononuclear cell, natural killer cell (human) protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:26291078 PMID:28328926 PMID:29625837
RGD:39128177 RGD:40400737 RGD:40818237
NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
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NFKBIA
NFKB inhibitor alpha
disease_progression
ISO
DNA:enhancers: :(rs2233406, rs2233409) (human)
RGD
PMID:29093318
RGD:127285389
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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PDCD1
programmed cell death 1
no_association disease_progression
ISO
mRNA:increased expression:liver parenchyma (human) DNA:SNPs::+7146 G>A,+7209 C>T(human) DNA:SNP:3' UTR:rs10204525(human) DNA:SNP:exon: protein:altered expression:serum:
RGD
PMID:20700634 PMID:22634051 PMID:25736598 PMID:28983583 PMID:30016557
RGD:36947881 RGD:40818231 RGD:40818233 RGD:40818262 RGD:40818415
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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PPP1R15A
protein phosphatase 1 regulatory subunit 15A
ISO
mRNA,protein:increased expression:liver
RGD
PMID:26234401
RGD:32716425
NCBI chr 6:54,172,038...54,175,461
Ensembl chr 6:54,172,050...54,175,463
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PPP1R16A
protein phosphatase 1 regulatory subunit 16A
disease_progression treatment
ISO
RGD
PMID:28007350 PMID:29279233
RGD:14975159 RGD:14975240
NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056
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PRDM1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:31100710
RGD:150530465
NCBI chr 1:72,309,096...72,335,474
Ensembl chr 1:72,311,880...72,335,466
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SLA-3
MHC class I antigen 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24162738
NCBI chr 7:22,938,211...22,942,735
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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 5:21,733,030...21,748,960
Ensembl chr 5:21,733,035...21,751,354
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STAT4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNPs, haplotypes:multiple
RGD
PMID:25829184
RGD:25671420
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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STING1
stimulator of interferon response cGAMP interactor 1
susceptibility
ISO
DNA:hypermethylation:promoter
RGD
PMID:30593207
RGD:39128221
NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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TAP1
transporter 1, ATP binding cassette subfamily B member
ISO
mRNA:decreased expression:blood
RGD
PMID:21843574
RGD:6482248
NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843
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TERT
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNP, haplotype: :rs10069690,rs2242652(human)
RGD
PMID:29507683
RGD:14696786
NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
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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
RGD:14995436
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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TLR2
toll like receptor 2
treatment disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:25337250 PMID:25771704 PMID:28414577
RGD:15090812 RGD:15090826 RGD:15090828
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR3
toll like receptor 3
susceptibility
ISO
DNA:SNP, haplotype: :1234C>T (human) DNA:snp: :rs3775290(human)
RGD
PMID:23076446 PMID:26024592
RGD:21079416 RGD:21079425
NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
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TLR4
toll like receptor 4
ISO
protein:increased expression:serum:
RGD
PMID:28414577
RGD:15090812
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TLR9
toll like receptor 9
severity
ISO
DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human) protein: increased expression:peripheral blood mononuclear cell (human) mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) protein:increased expression:peripheral blood mononuclear cell (human) mRNA, protein: decreased expression:liver, CD14-positive monocyte (human)
RGD
PMID:18215354 PMID:19513613 PMID:24622882 PMID:27126946 PMID:30453064
RGD:18337464 RGD:18337467 RGD:18337470 RGD:18337472 RGD:18337474
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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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 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
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TNFSF13B
TNF superfamily member 13b
treatment
ISO
RGD
PMID:30660173
RGD:27095888
NCBI chr11:75,599,296...75,633,044
Ensembl chr11:75,599,598...75,633,041
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UBE2L3
ubiquitin conjugating enzyme E2 L3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24162738
NCBI chr14:50,265,102...50,315,409
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ZFHX3
zinc finger homeobox 3
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20534899
RGD:151361169
NCBI chr 6:15,693,987...15,941,301
Ensembl chr 6:15,698,199...15,863,270
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AICDA
activation induced cytidine deaminase
treatment
ISO
RGD
PMID:28063995
RGD:30310232
NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369
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CA9
carbonic anhydrase 9
disease_progression
ISO
DNA:SNP::rs2071676(human)
RGD
PMID:32297155
RGD:40903057
NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822
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CCL4
C-C motif chemokine ligand 4
ISO
RGD
PMID:21914058
RGD:5683873
NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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CCL5
C-C motif chemokine ligand 5
susceptibility disease_progression
ISO
DNA:polymorphisms:promoter:-403G>A,-28C>G (human) DNA:polymorphisms: :
RGD
PMID:19017985 PMID:22576913 PMID:23336202 PMID:30536991
RGD:14401739 RGD:14995327 RGD:14995330 RGD:14995331
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CCND2
cyclin D2
disease_progression
ISO
DNA:SNP, haplotype:exon :rs1049606(human) mRNA:decreased expression:Peripheral Blood Mononuclear Cell
RGD
PMID:20414251 PMID:33320844
RGD:151664743 RGD:151664744
NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19185001
RGD:6893388
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343
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CCR5
C-C motif chemokine receptor 5
susceptibility disease_progression
ISO
DNA:polymorphism: :DNA:deletion:Cds: DNA:SNP: : rs1799987(human) DNA:polymorphism:promoter:59029A>G,59353C>T
RGD
PMID:17063508 PMID:27892677 PMID:29239247
RGD:14401574 RGD:14401575 RGD:14401727
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CD68
CD68 molecule
ISO
associated with inflammation;protein:increased expression:liver (human)
RGD
PMID:9699943
RGD:40925917
NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
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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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CTNNB1
catenin beta 1
ISO
associated with hepatocellular carcinoma;protein:increased expression:liver (human)
RGD
PMID:25536643
RGD:150429591
NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
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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 chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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CYP27B1
cytochrome P450 family 27 subfamily B member 1
severity
ISO
DNA:SNP:promoter: -1260C>A (rs10877012) (human)
RGD
PMID:22963605
RGD:25671410
NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
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DOCK8
dedicator of cytokinesis 8
disease_progression
ISO
DNA:SNP::rs506121(human)
RGD
PMID:32297155
RGD:40903057
NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953
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EFTUD2
elongation factor Tu GTP binding domain containing 2
susceptibility
ISO
RGD
PMID:34436958
RGD:155791665
NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479
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EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
disease_progression
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr 3:103,041,029...103,096,741
Ensembl chr 3:103,041,221...103,096,738
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FAS
Fas cell surface death receptor
ISO
protein:increased expression:liver:
RGD
PMID:12526294
RGD:14700675
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FASLG
Fas ligand
ISO
protein:increased expression:liver:
RGD
PMID:12526294
RGD:14700675
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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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 3:92,696,402...92,792,623
Ensembl chr 3:92,696,441...92,792,616
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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:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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HP
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 6:14,980,382...14,985,245
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IFNA1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15504288
NCBI chr 1:201,515,835...201,516,477
Ensembl chr 1:201,515,809...201,516,488
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IFNAR2
interferon alpha and beta receptor subunit 2
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to
ClinVar OMIM
PMID:16757563 PMID:25741868 PMID:28492532
NCBI chr13:196,765,915...196,852,640
Ensembl chr13:196,766,087...196,852,635
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IFNB1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15994231
NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
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IFNG
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15994231 PMID:20610715
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IFNGR1
interferon gamma receptor 1
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to
ClinVar OMIM
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
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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
RGD:14975150
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL10RB
interleukin 10 receptor subunit beta
susceptibility
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to
ClinVar OMIM
PMID:16757563 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29248579
NCBI chr13:196,853,606...196,884,237
Ensembl chr13:196,853,467...196,884,928
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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:19466545 PMID:27429592
RGD:14695540 RGD:14696658
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL2
interleukin 2
ISO
RGD
PMID:25968473
RGD:14747044
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL21
interleukin 21
ISO
mRNA:increased expression:spleen (C57BL/6N mouse)
RGD
PMID:29544722
RGD:127285375
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL27
interleukin 27
exacerbates
ISO
protein:increased expression:blood serum (human) mRNA:increased expression:blood plasma (human)
RGD
PMID:19081304 PMID:22766719 PMID:26925776
RGD:126790497 RGD:126790543 RGD:39128258
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL2RB
interleukin 2 receptor subunit beta
disease_progression
ISO
RGD
PMID:29307521
RGD:42724467
NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
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IL4
interleukin 4
treatment
ISO
DNA:SNPs: :rs2243250,rs2227284(human)
RGD
PMID:28051794
RGD:14696676
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL6
interleukin 6
ISO
DNA:SNP:promoter:-174C>G (human)
RGD
PMID:27268603
RGD:14975295
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IRF1
interferon regulatory factor 1
disease_progression
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
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KAT2A
lysine acetyltransferase 2A
treatment
ISO
RGD
PMID:23913178
RGD:9590262
NCBI chr12:20,638,493...20,647,464
Ensembl chr12:20,638,497...20,647,461
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KLRK1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:17991774 PMID:28318408
RGD:38676490 RGD:39128174
NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
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LOX
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594
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LOXL2
lysyl oxidase like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,867...7,540,704
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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 3:52,483,028...52,649,480
Ensembl chr 3:52,484,274...52,649,410
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MBL2
mannose binding lectin 2
disease_progression
ISO
DNA:haplotype:promoter,exon:
RGD
PMID:16231358
RGD:14696834
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MIR100
microRNA mir-100
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 9:49,157,909...49,157,988
Ensembl chr 9:49,157,909...49,157,988
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MIR122
microRNA mir-122
severity
ISO
miRNA:decreased expression:liver CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22105316 PMID:28545106
RGD:14401605
NCBI chr 1:162,329,776...162,329,860
Ensembl chr 1:162,329,767...162,329,860
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MIR148A
microRNA mir-148a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr18:46,415,213...46,415,280
Ensembl chr18:46,415,202...46,415,281
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MIR155
microRNA mir-155
ISO
RGD
PMID:29349567
RGD:21408592
NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
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MIR190A
microRNA mir-190a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:109,225,385...109,225,466
Ensembl chr 1:109,225,386...109,225,470
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MIR192
microRNA mir-192
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746
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MIR204
microRNA mir-204
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:224,065,494...224,065,602
Ensembl chr 1:224,065,494...224,065,602
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MIR28
microRNA mir-28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr13:126,282,167...126,282,252
Ensembl chr13:126,282,167...126,282,252
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MIR365-1
microRNA mir-365-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 3:28,908,137...28,908,216
Ensembl chr 3:28,908,129...28,908,219
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MIR365-2
microRNA mir-365-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr12:43,324,725...43,324,804
Ensembl chr12:43,324,728...43,324,809
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MIR378-1
microRNA mir-378-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 2:150,825,865...150,825,944
Ensembl chr 2:150,825,865...150,825,944
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MIR455
microRNA mir-455
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:254,824,200...254,824,279
Ensembl chr 1:254,824,196...254,824,291
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MIR885
microRNA mir-885
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr13:66,597,531...66,597,610
Ensembl chr13:66,597,531...66,597,610
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MIR99A
microRNA mir-99a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr13:181,302,483...181,302,562
Ensembl chr13:181,302,478...181,302,567
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MIRLET7C
microRNA let-7c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr13:181,303,209...181,303,302
Ensembl chr13:181,303,209...181,303,302
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MPL
MPL proto-oncogene, thrombopoietin receptor
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:23157389
RGD:126925755
NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,625
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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
RGD:38508898
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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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 chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109
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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 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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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:28667037 PMID:29786123 PMID:31770816
RGD:40818272 RGD:40818414 RGD:40818423
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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PLAU
plasminogen activator, urokinase
severity
ISO
protein:increased expression:plasma
RGD
PMID:18691743
RGD:6483828
NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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PLAUR
plasminogen activator, urokinase receptor
severity
ISO
protein:increased expression:plasma
RGD
PMID:18691743
RGD:6483828
NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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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 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044
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PRKCSH
PRKCSH beta subunit of glucosidase II
treatment
ISO
RGD
PMID:24769044
RGD:14402034
NCBI chr 2:70,097,424...70,114,460
Ensembl chr 2:70,097,444...70,114,446
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PTEN
phosphatase and tensin homolog
exacerbates
ISO
mRNA:decreased expression:liver (mouse)
RGD
PMID:31604033
RGD:127285593
NCBI chr14:99,929,590...100,021,619
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RNASEL
ribonuclease L
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
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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 chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
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SLC10A1
solute carrier family 10 member 1
ISO
ClinVar Annotator: match by term: Hepatitis B virus, resistance to
ClinVar
PMID:14660639 PMID:25418280 PMID:27882152 PMID:28835676 PMID:29658451
NCBI chr 7:93,400,037...93,421,989
Ensembl chr 7:93,397,608...93,421,985
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STAT4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27444301
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:27312012
RGD:39128205
NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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TLR2
toll like receptor 2
treatment
ISO
RGD
PMID:30008718
RGD:15090859
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR3
toll like receptor 3
susceptibility disease_progression
ISO
DNA:SNP, haplotype: rs1879026(human) DNA:SNPs, haplotype: rs3775291,rs5743305 (human)
RGD
PMID:22825813 PMID:30143709
RGD:21079424 RGD:21079431
NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
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TLR9
toll like receptor 9
susceptibility
ISO
DNA:SNP:exon:2848G>A (rs352140) (human)
RGD
PMID:25388852
RGD:18337480
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TNF
tumor necrosis factor
severity no_association treatment
ISO
DNA:SNPs:promoter:-863C>A, -308A>G (human) DNA:SNP:promoter:-308G>A (rs1800629) (human) DNA:SNP:promoter:-857C>T (rs1799724) (human)
RGD
PMID:12915457 PMID:27644568
RGD:14975150 RGD:14995438
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TREM1
triggering receptor expressed on myeloid cells 1
ISO
protein:increased expression:plasma
RGD
PMID:27328755
RGD:126925974
NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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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 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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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 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729
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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 6:93,541,334...93,551,200
Ensembl chr 6:93,541,334...93,551,193
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