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: Chronic Hepatitis C
Accession: DOID:9004017
browse the term
Definition: INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS.
Synonyms: primary_id: MESH:D019698
xref: EFO:0004220
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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
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Abcb11
ATP binding cassette subfamily B member 11
susceptibility disease_progression treatment
ISO
DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) DNA:SNP:cds:c.1331T>C (rs2287622)(human)
RGD
PMID:29755014 PMID:22681771 PMID:29091211
RGD:14402415 , RGD:14402416 , RGD:14402417
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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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
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Ace
angiotensin I converting enzyme
treatment
ISO IEP
protein:decreased expression:serum (human)
RGD
PMID:29641775 PMID:27147779 PMID:17106926
RGD:25671451 , RGD:25671456 , RGD:40400711
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adar
adenosine deaminase, RNA-specific
no_association treatment disease_progression
ISO
DNA:SNP:exon: (rs1127309) (human) DNA:snps, haplotype: (rs7515339, rs903323) (human) DNA:silent mutation:CDS:p.V849V (rs1127309) (human) associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human)
RGD
PMID:26911666 PMID:17979507 PMID:19434718 PMID:29906476
RGD:11554370 , RGD:38599150 , RGD:125097513 , RGD:125097514
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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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
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Aicda
activation-induced cytidine deaminase
disease_progression
ISO
mRNA:increased expression:B cell mRNA:increased expression:peripheral blood mononuclear cell (human) mRNA, protein:increased expression:B cell, CD19-positive (human)
RGD
PMID:26219420 PMID:26946048 PMID:20189883
RGD:30296664 , RGD:32716369 , RGD:32716380
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Ang
angiogenin
ISO
RGD
PMID:21848603
RGD:6892709
NCBI chr15:24,312,711...24,323,361
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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
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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
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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
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Ccl5
C-C motif chemokine ligand 5
severity disease_progression treatment
ISO
DNA:polymorphism:promoter:-403G>A(human) DNA:SNP: :rs3817656(human) mRNA:increased expression:liver: DNA:SNPs,haplotype: :
RGD
PMID:12557141 PMID:29703961 PMID:15770052 PMID:15368437
RGD:14995332 , RGD:14995334 , RGD:14995336 , RGD:14995340
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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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
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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
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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
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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
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Cd209d
CD209d 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
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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
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Cd274
CD274 molecule
ISO
protein:increased expression:peripheral blood mononuclear cell
RGD
PMID:18086898
RGD:41410796
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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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
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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
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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
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Crp
C-reactive protein
ISO
RGD
PMID:22333691
RGD:6482311
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human)
RGD
PMID:25605587
RGD:39939081
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ifna2
interferon alpha 2
treatment
ISO
associated with end stage renal disease
RGD
PMID:9187562 PMID:9310930 PMID:17881538 PMID:8868074 PMID:21272456 PMID:19152412 PMID:7493300 More...
RGD:40886308 , RGD:40886310 , RGD:40886311 , RGD:40886313 , RGD:40886314 , RGD:40886316 , RGD:40886318
NCBI chr 5:103,258,617...103,259,195
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Ifnl1
interferon, lambda 1
ameliorates
ISO
protein:increased expression:blood serum (human) protein:altered expression:blood serum (human) mRNA,protein:increased expression:liver, blood serum (human)
RGD
PMID:30926417 PMID:21145813 PMID:23071503
RGD:126848741 , RGD:126848747 , RGD:126848749
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Ifnl3
interferon, lambda 3
treatment disease_progression susceptibility
ISO
DNA:SNP: :rs8099917 (human) associated with Hemoglobinopathies;DNA:missense mutation, enhancer, haplotype:cds, :p.K70R, (rs12979860) (human) DNA:SNP:3' utr: (rs4803217) (human) DNA:SNP:enhancer: (rs12979860) (human) DNA:SNPs:3'utr, enhancer: (rs12980275, rs12979860) (human) DNA:SNP:5'utr: (rs12979860) (human) DNA:SNP:enhancer: (rs8099917) (human) DNA:SNP:enhancer: (rs12979860,rs8099917) (human) DNA:SNP,haplotype:enhancer: (rs12979860,rs8099917) (human)
RGD
PMID:23730840 PMID:21615377 PMID:28638221 PMID:25788203 PMID:28739427 PMID:25283962 PMID:27027531 PMID:24376784 PMID:26741362 PMID:28186161 PMID:24646752 PMID:24355007 More...
RGD:10766476 , RGD:11528556 , RGD:14398740 , RGD:14398733 , RGD:40400891 , RGD:40822824 , RGD:40886277 , RGD:40886281 , RGD:11344289 , RGD:40886290 , RGD:40886292 , RGD:11096670
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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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
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Il10
interleukin 10
susceptibility no_association treatment
ISO
protein:increased expression:serum: DNA:polymorphism:promoter: DNA:SNP:promoter:-592C>A (rs1800872) (human) DNA:SNP:promoter: rs3021094, rs3024498 (human)
RGD
PMID:26095186 PMID:26095186 PMID:29247709 PMID:29247709 PMID:25708446
RGD:14700655 , RGD:14700655 , RGD:14975141 , RGD:14975141 , RGD:38456002
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12b
interleukin 12B
severity
ISO
DNA:SNP:3' utr:+1188A>C (human)
RGD
PMID:15871664
RGD:14401721
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il17d
interleukin 17D
severity
ISO
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human)
RGD
PMID:27875997
RGD:40903073
NCBI chr15:31,671,337...31,688,833
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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
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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
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Il21
interleukin 21
ameliorates
ISO
protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human)
RGD
PMID:24170093
RGD:127285373
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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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
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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:23591975 PMID:25708446
RGD:14696678 , RGD:14696686 , RGD:38456002
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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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
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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
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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
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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
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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
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Klrk1
killer cell lectin like receptor K1
treatment disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) protein:decreased expression:liver,natural killer cell (human)
RGD
PMID:25965701 PMID:21168454 PMID:25148254
RGD:39018562 , RGD:40400738 , RGD:40813739
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 expression:serum (human) protein:increased degradation:serum (human) protein:increased expression:liver, serum (human)
RGD
PMID:30839434 PMID:19333204 PMID:22404726 PMID:23820504
RGD:18337481 , RGD:18337493 , RGD:18337496 , RGD:18337500
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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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
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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
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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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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
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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
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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
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Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:24895202
RGD:14401602
NCBI chr18:58,758,703...58,758,787
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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
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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
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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
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Mx1
MX dynamin like GTPase 1
treatment exacerbates
IEP ISO
DNA:SNPs:promoter: (rs2071430, rs17000900) (human) DNA:SNPs:promoter:g.-123C>A, -88G>T(human)
RGD
PMID:28036111 PMID:29271328 PMID:25239021
RGD:40400915 , RGD:126777679 , RGD:11067846
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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Ncr1
natural cytotoxicity triggering receptor 1
treatment disease_progression
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:liver, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:31218578 PMID:21168454 PMID:25148254 PMID:20550548 PMID:21695691 PMID:16322112 PMID:23813131 More...
RGD:40400920 , RGD:40400738 , RGD:40813739 , RGD:40818079 , RGD:40818295 , RGD:40818296 , RGD:40818297
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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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:20550548 PMID:21695691 PMID:16322112 PMID:23813131
RGD:40400738 , RGD:40818079 , RGD:40818295 , RGD:40818296 , RGD:40818297
NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
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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
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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
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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
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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
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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
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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
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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
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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
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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
Ensembl chr20:4,760,118...4,770,244
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ameliorates
ISO
mRNA:increased expression:peripheral blood mononuclear cell(human) DNA:polymorphism: :HLA-DPB1*04:01 (human)
RGD
PMID:27601657 PMID:28332201
RGD:150429796 RGD:150429805
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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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
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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
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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
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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
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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
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Tlr3
toll-like receptor 3
treatment susceptibility disease_progression severity
ISO
DNA:SNP:cds:p.Leu412Phe(human) treatment:peginterferon plus ribavirin. DNA:SNP: :rs3775290(human) DNA:SNP: :rs13126816 (human)
RGD
PMID:23240626 PMID:19674283 PMID:30321082 PMID:29860675 PMID:23220997 PMID:28480979 More...
RGD:21079422 , RGD:21079423 , RGD:21079427 , RGD:21079428 , RGD:21079430 , RGD:21079435
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
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
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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
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Tnf
tumor necrosis factor
severity treatment
ISO
protein:increased expression:serum (human) protein:increased expression:plasma (human)
RGD
PMID:9047083 PMID:9440625 PMID:25708446
RGD:14995307 , RGD:14995439 , RGD:38456002
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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
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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
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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
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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
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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
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