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
Accession: DOID:9008510
browse the term
Definition: INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors.
Synonyms: exact_synonym: chronic active hepatitis; chronic persistent hepatitis; cryptogenic chronic hepatitis
xref: EFO:0008496 ; MESH:D006521
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:241,159,724...241,172,503
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Atox1
antioxidant 1 copper chaperone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr10:39,564,855...39,579,892
Ensembl chr10:40,065,527...40,080,585
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Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr X:75,159,635...75,267,094
Ensembl chr X:75,159,782...75,267,093
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Casp3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526
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Ccs
copper chaperone for superoxide dismutase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:211,542,701...211,564,260
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Commd1
copper metabolism domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914 PMID:25053573
NCBI chr14:96,880,463...96,984,494
Ensembl chr14:101,081,667...101,185,639
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Cox17
cytochrome c oxidase copper chaperone COX17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr11:62,400,733...62,406,507
Ensembl chr11:75,906,248...75,912,019
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:104,368,456...104,427,087
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Gnmt
glycine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19146867
NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:21,752,266...21,755,692
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Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851
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Kit
KIT proto-oncogene receptor tyrosine kinase
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:24331700
RGD:596948405
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812
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Krt19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,576,235...85,580,952
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Krt7
keratin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:134,407,584...134,423,786
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Met
MET proto-oncogene, receptor tyrosine kinase
severity
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver
CTD RGD
PMID:22879914 PMID:8778194
RGD:14694827
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821
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Mir21
microRNA 21
ISO
RNA:increased expression:plasma
RGD
PMID:21749846
RGD:41404642
NCBI chr10:71,902,600...71,902,691
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Mki67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:199,926,150...199,952,593
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Mt1a
metallothionein 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr19:10,831,959...10,832,975
Ensembl chr17:79,695,809...79,696,200 Ensembl chr X:79,695,809...79,696,200 Ensembl chr19:79,695,809...79,696,200
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Nos2
nitric oxide synthase 2
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:21947361
RGD:5509580
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880
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Plat
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:1909901
RGD:11541068
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696
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Shc1
SHC adaptor protein 1
IEP
protein:increased expression, increased phosphorylation:hepatocyte
RGD
PMID:15375560
RGD:1643188
NCBI chr 2:177,135,649...177,147,257
Ensembl chr 2:177,135,659...177,147,914
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Smad2
SMAD family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
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Vwf
von Willebrand factor
ISO
RGD
PMID:25715487
RGD:617154598
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:160,047,982...160,177,757
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:19301087
RGD:5686833
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:91,226,180...91,240,169
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Aldob
aldolase, fructose-bisphosphate B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16115720
NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:68,684,542...68,716,740
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C1s
complement C1s
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11390518
NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:159,116,549...159,128,736
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
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Ccl5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,738,651...68,824,884
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Cd274
CD274 molecule
ISO
RGD
PMID:19781375
RGD:41412171
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:236,496,463...236,549,951
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNPs:exons:49A>G (rs231775), CT60 C > T(rs3087243)(human)
RGD
PMID:30320190
RGD:14398726
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,477,549...17,479,811
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr14:17,571,900...17,573,624
Ensembl chr14:17,571,900...17,573,624
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Cyp2d3
cytochrome P450, family 2, subfamily d, polypeptide 3
ISO
RGD
PMID:3186722
RGD:7207226
NCBI chr 7:113,917,711...113,922,068
Ensembl chr 7:115,797,789...115,802,158
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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 7:115,762,662...115,771,832
Ensembl chr 7:115,761,696...115,771,837
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Dnase1
deoxyribonuclease 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:28263100
RGD:38500241
NCBI chr10:12,005,305...12,030,615
Ensembl chr10:12,005,306...12,010,497
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F2
coagulation factor II, thrombin
disease_progression
ISO
RGD
PMID:21711423 PMID:20821236
RGD:5147750 , RGD:5147775
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246
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Fas
Fas cell surface death receptor
treatment
ISO
protein:increased expression:lymphocyte:
RGD
PMID:28551553 PMID:26429926
RGD:14700710 , RGD:14700711
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
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Faslg
Fas ligand
treatment
ISO
RGD
PMID:28551553
RGD:14700710
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503
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Hras
HRas proto-oncogene, GTPase
ISO
human gene in a mouse model
RGD
PMID:9195373
RGD:14694814
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
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Il13
interleukin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483
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Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
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Il2
interleukin 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21227906 PMID:29233784 PMID:29323192
RGD:14747042 , RGD:14747037
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
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Il21
interleukin 21
exacerbates
ISO
protein:increased expression:blood serum, peripheral blood mononuclear cell (human)
RGD
PMID:27386263
RGD:127285554
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
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Il22
interleukin 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:55,686,896...55,692,201
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Il4
interleukin 4
treatment susceptibility
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum: DNA:SNPs:promoter:-590C>T,-33T>C (human)
CTD RGD
PMID:21227906 PMID:30034292 PMID:30034292 PMID:26735262
RGD:14696683 , RGD:14696683 , RGD:14696677
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
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Il5
interleukin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:38,375,132...38,378,003
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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Il9
interleukin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,117,028...8,120,151
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Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:58,626,523...58,640,661
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Mir155
microRNA 155
treatment
ISO
RGD
PMID:30290123 PMID:29420849
RGD:21081535 , RGD:21409750
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
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Mir223
microRNA 223
treatment
ISO
RGD
PMID:31826604 PMID:29145157
RGD:21408546 , RGD:21408563
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:65,151,383...65,151,492
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Pdcd1
programmed cell death 1
ISO
RGD
PMID:23869988 PMID:19781375
RGD:40818236 , RGD:41412171
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:101,866,126...101,879,270
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Pdcd1lg2
programmed cell death 1 ligand 2
ISO
RGD
PMID:19781375
RGD:41412171
NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:236,565,526...236,637,490
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Pdia3
protein disulfide isomerase family A, member 3
IDA ISO
RGD
PMID:20208391 PMID:20208391
RGD:9999172 , RGD:9999172
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:128,841,917...128,867,327
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism (human)
RGD
PMID:20007077 PMID:17050030
RGD:5147584 , RGD:5147634
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphisms: :multiple (human) DNA:polymorphism (human)
RGD
PMID:17050030 PMID:10573514 PMID:11182227 PMID:15763345
RGD:5147634 , RGD:5147856 , RGD:5147810 , RGD:5147652
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
DNA:SNP, polymorphism:3' utr, :g.33087030G>A, HLA-DPB1*04:05 (rs9277534) (human)
RGD
PMID:30093645
RGD:150429797
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,776,547...4,781,574
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human)
RGD
PMID:28977835
RGD:25671419
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum (human)
RGD
PMID:9047083
RGD:14995307
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:polymorphism: :
GAD RGD
PMID:15118671 PMID:15683428
RGD:1331525 , RGD:14402024
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:plasma:
RGD
PMID:26615570
RGD:11538286
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
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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 chr19:53,551,488...53,795,664
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Adar
adenosine deaminase, RNA-specific
treatment
ISO
DNA:SNP:enhancer: (rs4845384) (human)
RGD
PMID:24351124
RGD:125097515
NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971
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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 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729
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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 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
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Birc3
baculoviral IAP repeat-containing 3
ameliorates
ISO
RGD
PMID:25902529
RGD:152998939
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:13,285,703...13,298,590
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C2
complement C2
susceptibility
IAGP
DNA:SNP:exon: p.Glu318Asp (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,955,776...3,981,740
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:decreased expression:serum:
RGD
PMID:26281331
RGD:14995947
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
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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 chr10:68,738,651...68,824,884
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17657819
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976
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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 4:158,770,749...158,804,146
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Cd1d1
CD1d1 molecule
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)
RGD
PMID:29643189
RGD:127345114
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
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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 1:236,496,463...236,549,951
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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 1:228,757,466...228,832,906
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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 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
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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 chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
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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 4:104,363,833...104,425,268
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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:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
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Gpt
glutamic--pyruvic transaminase
treatment disease_progression
ISO
RGD
PMID:29279233 PMID:28007350
RGD:14975159 , RGD:14975240
NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:110,296,206...110,300,160
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:54,446,217...54,467,518
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
protein:increased expression:serum (human)
RGD
PMID:28465467
RGD:39939037
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
G
Ifna2
interferon alpha 2
susceptibility
ISO
DNA:SNP:exon: p.Ala120Thr (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr 5:103,258,617...103,259,195
Ensembl chr 5:108,374,363...108,374,941
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Ifng
interferon gamma
ISO
protein:decreased expression:serum (human)
RGD
PMID:26684441 PMID:28465467
RGD:14974255 , RGD:39939037
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
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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
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Il12a
interleukin 12A
ISO
mRNA:increased expression:liver
RGD
PMID:26062743
RGD:11097839
NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:155,275,625...155,282,997
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Il12b
interleukin 12B
susceptibility
ISO
DNA:SNP:3'utr: (rs3212227)
RGD
PMID:25469587
RGD:11074616
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194
G
Il18
interleukin 18
disease_progression
ISO
DNA:SNP:promoter:-607C>A(human)
RGD
PMID:27470888
RGD:14696663
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
protein:increased expression:serum:
RGD
PMID:27180842 PMID:28381383
RGD:39457933 , RGD:39938857
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:50,204,551...50,222,891
G
Il2
interleukin 2
susceptibility
ISO
DNA:polymorphism:promoter:-385T>G(human)
RGD
PMID:19105930
RGD:14747034
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il21
interleukin 21
susceptibility treatment exacerbates
ISO
DNA:SNP:intron: (rs2221903) (human) associated with non-alcoholic fatty liver disease DNA:SNPs:introns: (rs2221903, rs907715) (human) protein:increased expression:blood serum (human) protein:decreased expression:blood serum (human)
RGD
PMID:23354321 PMID:31281514 PMID:26840345 PMID:29879024 PMID:25243706 PMID:32373234 PMID:30260401 PMID:28500636 More...
RGD:127285353 , RGD:127285551 , RGD:127285549 , RGD:127285539 , RGD:127285378 , RGD:127285369 , RGD:127285364 , RGD:127285361
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
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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 1:237,115,572...237,150,901
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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 chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
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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 chr16:6,086,973...6,102,160
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Jak1
Janus kinase 1
disease_progression
ISO
DNA:SNPs: :rs4244165, rs17127024 (human)
RGD
PMID:22901011
RGD:19165132
NCBI chr 5:120,895,606...121,004,207
Ensembl chr 5:120,896,046...120,996,758
G
Keap1
Kelch-like ECH-associated protein 1
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:22459801
RGD:6892954
NCBI chr 8:28,044,555...28,054,042
Ensembl chr 8:28,044,555...28,054,042
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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 4:164,828,163...164,838,446
Ensembl chr 4:164,828,163...164,838,464
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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 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
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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 7:135,036,168...135,039,844
Ensembl chr 7:135,035,982...135,039,848 Ensembl chr10:135,035,982...135,039,848
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Lepr
leptin receptor
ISO
mRNA:altered exression:PBMC,liver
RGD
PMID:17060687
RGD:21079470
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215
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Mbl2
mannose binding lectin 2
severity
ISO
DNA:haplotype: :
RGD
PMID:27824315
RGD:14696831
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
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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
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Mir155
microRNA 155
ISO
RGD
PMID:30735455
RGD:21081537
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
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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 5:137,259,288...137,272,177
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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:26291078 PMID:29625837
RGD:40400737 , RGD:40818237 , RGD:39128177
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:78,659,262...78,703,273
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Nfkbia
NFKB inhibitor alpha
disease_progression
ISO
DNA:enhancers: :(rs2233406, rs2233409) (human)
RGD
PMID:29093318
RGD:127285389
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
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Pdcd1
programmed cell death 1
disease_progression no_association
ISO
DNA:SNP:3' UTR:rs10204525(human) protein:altered expression:serum: DNA:SNP:exon: DNA:SNPs::+7146 G>A,+7209 C>T(human)
RGD
PMID:30016557 PMID:28983583 PMID:20700634 PMID:25736598
RGD:40818231 , RGD:40818415 , RGD:40818262 , RGD:40818233
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:101,866,126...101,879,270
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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 1:105,136,525...105,139,774
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:31100710
RGD:150530465
NCBI chr20:49,542,465...49,564,088
Ensembl chr20:49,542,465...49,564,088
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RT1-Ba
RT1 class II, locus Ba
treatment susceptibility disease_progression
ISO
DNA:polymorphisms: : DNA:polymorphisms: :HLA-DQA1*0101/2/4, HLA-DQA1*0103 (human) DNA:haplotype:: DNA:polymorphisms: :HLA-DQA1*0303, HLA-DQA1*0505(human) DNA:polymorphism: :
RGD
PMID:27386643 PMID:30168489 PMID:22807686 PMID:16883532 PMID:15237447 PMID:14562382 More...
RGD:14398752 , RGD:14398755 , RGD:14398843 , RGD:14398840 , RGD:14398838 , RGD:14398759
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
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RT1-Bb
RT1 class II, locus Bb
treatment no_association
ISO
DNA:polymorphisms (human) DNA:polymorphism: :HLA-DQB1*07(human) DNA:SNP: :rs2856718 (human) DNA:polymorphisms: :multiple
RGD
PMID:16893387 PMID:16237774 PMID:28267888 PMID:29287219
RGD:5147637 , RGD:36049762 , RGD:14974232 , RGD:14865012
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
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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 chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
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RT1-Ha
RT1 class II, locus Ha
treatment disease_progression susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3077(human) DNA:polymorphism::HLA-DPA1*04:01(human) mRNA:decreased expression:peripheral blood mononuclear cell:
CTD RGD
PMID:19349983 PMID:29300980 PMID:28275747 PMID:30267609 PMID:30267609
RGD:14694973 , RGD:14694818 , RGD:14694817 , RGD:14694817
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,763,033...4,772,141
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility severity treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:exon 6: (rs9277542) (human) DNA:SNPs:multiple (human) DNA:SNP:exon, 3' utr: (rs9277542) (human) DNA:polymorphisms, haplotypes:multiple (human) DNA:polymorphisms:multiple (human) DNA:polymorphism:exon, 3' utr: (rs9277535) (human) DNA:SNP: :rs33054861(human) DNA:polymorphism: :(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 chr20:4,776,547...4,781,574
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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 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
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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 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
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Sting1
stimulator of interferon response cGAMP interactor 1
susceptibility
ISO
DNA:hypermethylation:promoter
RGD
PMID:30593207
RGD:39128221
NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,606,196...27,611,947
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
mRNA:decreased expression:blood
RGD
PMID:21843574
RGD:6482248
NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,658,172...4,668,810
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Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNP, haplotype: :rs10069690,rs2242652(human)
RGD
PMID:29507683
RGD:14696786
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
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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 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
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Tlr2
toll-like receptor 2
treatment disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:28414577 PMID:25771704 PMID:25337250
RGD:15090812 , RGD:15090828 , RGD:15090826
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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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 chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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Tlr4
toll-like receptor 4
ISO
protein:increased expression:serum:
RGD
PMID:28414577
RGD:15090812
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Tlr9
toll-like receptor 9
severity
ISO
mRNA, protein: decreased expression:liver, CD14-positive monocyte (human) protein:increased expression:peripheral blood mononuclear cell (human) protein: increased expression:peripheral blood mononuclear cell (human) mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human)
RGD
PMID:24622882 PMID:27126946 PMID:18215354 PMID:19513613 PMID:30453064
RGD:18337464 , RGD:18337474 , RGD:18337472 , RGD:18337470 , RGD:18337467
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
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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 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979
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Tnfsf13b
TNF superfamily member 13b
treatment
ISO
RGD
PMID:30660173
RGD:27095888
NCBI chr16:86,164,377...86,195,072
Ensembl chr16:86,164,377...86,194,499
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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 chr11:97,301,945...97,343,084
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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 chr19:53,551,488...53,795,664
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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 5:72,473,676...72,596,563
Ensembl chr 5:72,473,676...72,596,473
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Abcb11
ATP binding cassette subfamily B member 11
susceptibility treatment disease_progression
ISO
DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) DNA:SNP:cds:c.1331T>C (rs2287622)(human)
RGD
PMID:29755014 PMID:29091211 PMID:22681771
RGD:14402415 , RGD:14402417 , RGD:14402416
NCBI chr 3:74,424,620...74,520,646
Ensembl chr 3:74,424,979...74,520,581
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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 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135
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Ace
angiotensin I converting enzyme
treatment
ISO IEP
protein:decreased expression:serum (human)
RGD
PMID:29641775 PMID:17106926 PMID:27147779
RGD:25671451 , RGD:40400711 , RGD:25671456
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
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Adar
adenosine deaminase, RNA-specific
no_association disease_progression treatment
ISO
DNA:SNP:exon: (rs1127309) (human) associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human) DNA:silent mutation:CDS:p.V849V (rs1127309) (human) DNA:snps, haplotype: (rs7515339, rs903323) (human)
RGD
PMID:26911666 PMID:29906476 PMID:19434718 PMID:17979507
RGD:11554370 , RGD:125097514 , RGD:125097513 , RGD:38599150
NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971
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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 chr11:91,226,180...91,240,169
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Aicda
activation-induced cytidine deaminase
disease_progression
ISO
mRNA:increased expression:B cell mRNA, protein:increased expression:B cell, CD19-positive (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26219420 PMID:20189883 PMID:26946048
RGD:30296664 , RGD:32716380 , RGD:32716369
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
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Ang
angiogenin
ISO
RGD
PMID:21848603
RGD:6892709
NCBI chr15:26,786,233...26,796,883
Ensembl chr15:26,786,065...26,801,106
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Apoe
apolipoprotein E
severity
ISO
DNA:polymorphism:exon:
RGD
PMID:12143056
RGD:7495764
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
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Aurka
aurora kinase A
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:181,546,742...181,562,771
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Ccl2
C-C motif chemokine ligand 2
ISO
RNA:increased expression:liver:
RGD
PMID:24429361
RGD:14975280
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
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Ccl5
C-C motif chemokine ligand 5
severity treatment disease_progression
ISO
DNA:polymorphism:promoter:-403G>A(human) DNA:SNPs,haplotype: : mRNA:increased expression:liver: DNA:SNP: :rs3817656(human)
RGD
PMID:12557141 PMID:15368437 PMID:15770052 PMID:29703961
RGD:14995332 , RGD:14995340 , RGD:14995336 , RGD:14995334
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,738,651...68,824,884
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810
G
Ccnd2
cyclin D2
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301 Ensembl chr 4:161,653,048...161,680,301
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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 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
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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 4:158,770,749...158,804,146
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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 chr12:6,689,002...6,698,976
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Cd226
CD226 molecule
treatment
ISO
RGD
PMID:21695691
RGD:40818295
NCBI chr18:84,723,330...84,819,836
Ensembl chr18:84,725,242...84,819,835
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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 1:236,496,463...236,549,951
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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 chr11:87,926,376...87,941,533
Ensembl chr11:87,926,337...87,941,529
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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 chr12:6,713,812...6,722,410
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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 1:209,993,875...210,056,326
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Crp
C-reactive protein
ISO
RGD
PMID:22333691
RGD:6482311
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
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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 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:serum
RGD
PMID:31127759
RGD:27095949
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
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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 7:64,756,626...64,761,570
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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 7:115,762,662...115,771,832
Ensembl chr 7:115,761,696...115,771,837
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Foxp3
forkhead box P3
ISO
RGD
PMID:18673437
RGD:38548921
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
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Ggt1
gamma-glutamyltransferase 1
severity
ISO
RGD
PMID:10934805
RGD:14747019
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,141...13,088,050
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Gpt
glutamic--pyruvic transaminase
ISO
protein:increased activity:plasma
RGD
PMID:22922605
RGD:14975251
NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:110,296,206...110,300,160
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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 chr19:37,691,901...37,733,917
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:17397002
RGD:14700966
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
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Gstt1
glutathione S-transferase theta 1
ISO
RGD
PMID:17397002
RGD:14700966
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:54,446,217...54,467,518
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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 chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
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Ifna2
interferon alpha 2
treatment
ISO
associated with end stage renal disease
RGD
PMID:9187562 PMID:7493300 PMID:19152412 PMID:21272456 PMID:8868074 PMID:17881538 PMID:9310930 More...
RGD:40886308 , RGD:40886318 , RGD:40886316 , RGD:40886314 , RGD:40886313 , RGD:40886311 , RGD:40886310
NCBI chr 5:103,258,617...103,259,195
Ensembl chr 5:108,374,363...108,374,941
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Ifnl1
interferon, lambda 1
ameliorates
ISO
protein:increased expression:blood serum (human) mRNA,protein:increased expression:liver, blood serum (human) protein:altered expression:blood serum (human)
RGD
PMID:30926417 PMID:23071503 PMID:21145813
RGD:126848741 , RGD:126848749 , RGD:126848747
NCBI chr 1:83,798,651...83,800,297
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Ifnl3
interferon, lambda 3
treatment disease_progression susceptibility
ISO
DNA:SNP: :rs8099917 (human) DNA:SNP:enhancer: (rs8099917) (human) DNA:SNP,haplotype:enhancer: (rs12979860,rs8099917) (human) DNA:SNP:enhancer: (rs12979860) (human) DNA:SNP:enhancer: (rs12979860,rs8099917) (human) DNA:SNP:5'utr: (rs12979860) (human) DNA:SNPs:3'utr, enhancer: (rs12980275, rs12979860) (human) DNA:SNP:3' utr: (rs4803217) (human) associated with Hemoglobinopathies;DNA:missense mutation, enhancer, haplotype:cds, :p.K70R, (rs12979860) (human)
RGD
PMID:23730840 PMID:24355007 PMID:24646752 PMID:28186161 PMID:26741362 PMID:24376784 PMID:27027531 PMID:25283962 PMID:28739427 PMID:25788203 PMID:28638221 PMID:21615377 More...
RGD:10766476 , RGD:11096670 , RGD:40886292 , RGD:40886290 , RGD:11344289 , RGD:40886281 , RGD:40886277 , RGD:40822824 , RGD:40400891 , RGD:14398733 , RGD:14398740 , RGD:11528556
NCBI chr 1:83,814,456...83,816,096
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Igf2
insulin-like growth factor 2
severity
ISO
DNA:SNPs, haplotype:multiple
RGD
PMID:16750516
RGD:14401723
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667
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Il10
interleukin 10
treatment no_association susceptibility
ISO
protein:increased expression:serum: DNA:SNP:promoter: rs3021094, rs3024498 (human) DNA:SNP:promoter:-592C>A (rs1800872) (human) DNA:polymorphism:promoter:
RGD
PMID:26095186 PMID:25708446 PMID:29247709 PMID:29247709 PMID:26095186
RGD:14700655 , RGD:38456002 , RGD:14975141 , RGD:14975141 , RGD:14700655
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
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Il12b
interleukin 12B
severity
ISO
DNA:SNP:3' utr:+1188A>C (human)
RGD
PMID:15871664
RGD:14401721
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194
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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
Ensembl chr15:35,786,898...35,804,391
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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 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
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Il2
interleukin 2
treatment
ISO
RGD
PMID:12673448
RGD:14807336
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
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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 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
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Il27
interleukin 27
ameliorates
ISO
DNA:SNP:promoter:-964A>G (rs153109) (human)
RGD
PMID:27221901
RGD:126790538
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
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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:25708446 PMID:23591975
RGD:14696678 , RGD:38456002 , RGD:14696686
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
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Il6
interleukin 6
treatment
ISO
DNA:SNPs:promoter:rs1800795 (human)
RGD
PMID:27812403
RGD:14975294
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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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 5:172,066,369...172,067,656
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Itgb6
integrin subunit beta 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18221819
NCBI chr 3:65,454,964...65,579,179
Ensembl chr 3:65,456,713...65,530,333
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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 1:78,756,035...78,796,961
Ensembl chr 1:78,757,394...78,796,715
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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 4:164,828,163...164,838,446
Ensembl chr 4:164,828,163...164,838,464
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Klrk1
killer cell lectin like receptor K1
treatment disease_progression
ISO
protein:decreased expression:liver,natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:25965701 PMID:25148254 PMID:21168454
RGD:39018562 , RGD:40813739 , RGD:40400738
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
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Krt18
keratin 18
disease_progression severity
ISO
protein:increased expression:serum (human) protein:increased expression:liver, serum (human) protein:increased degradation:serum (human)
RGD
PMID:30839434 PMID:23820504 PMID:22404726 PMID:19333204
RGD:18337481 , RGD:18337500 , RGD:18337496 , RGD:18337493
NCBI chr 7:135,036,168...135,039,844
Ensembl chr 7:135,035,982...135,039,848 Ensembl chr10:135,035,982...135,039,848
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Krt8
keratin 8
ISO
protein:increased phosphorylation:liver (human)
RGD
PMID:15368451
RGD:14401583
NCBI chr 7:135,002,886...135,010,339
Ensembl chr 7:135,002,894...135,010,403
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Lep
leptin
IEP
protein:altered localization:serum (human)
RGD
PMID:11336170
RGD:21201249
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:58,626,523...58,640,661
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Lepr
leptin receptor
ISO
mRNA:altered exression:PBMC,liver
RGD
PMID:17060687
RGD:21079470
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215
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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 chr15:23,086,841...23,111,737
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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 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
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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
G
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
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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 chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
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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:65,151,383...65,151,492
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Mx1
MX dynamin like GTPase 1
treatment exacerbates
IEP ISO
DNA:SNPs:promoter:g.-123C>A, -88G>T(human) DNA:SNPs:promoter: (rs2071430, rs17000900) (human)
RGD
PMID:28036111 PMID:25239021 PMID:29271328
RGD:40400915 , RGD:11067846 , RGD:126777679
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:50,269,057...50,292,904
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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:increased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:liver, natural killer cell (human)
RGD
PMID:31218578 PMID:23813131 PMID:16322112 PMID:21695691 PMID:20550548 PMID:25148254 PMID:21168454 More...
RGD:40400920 , RGD:40818297 , RGD:40818296 , RGD:40818295 , RGD:40818079 , RGD:40813739 , RGD:40400738
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:78,659,262...78,703,273
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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:23813131 PMID:16322112 PMID:21695691 PMID:20550548
RGD:40400738 , RGD:40818297 , RGD:40818296 , RGD:40818295 , RGD:40818079
NCBI chr20:3,642,912...3,648,425
Ensembl chr20:3,642,912...3,644,188
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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 2:226,689,745...226,783,088
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Plau
plasminogen activator, urokinase
ISO
RGD
PMID:19628656
RGD:6483809
NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030
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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 7:118,712,261...118,780,723
Ensembl chr 7:118,712,412...118,780,714
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Prdx5
peroxiredoxin 5
ISO
mRNA:decreased expression:liver, blood (human)
RGD
PMID:32103340
RGD:41404682
NCBI chr 1:213,529,042...213,532,787
Ensembl chr 1:213,529,035...213,533,020
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Prf1
perforin 1
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25148254
RGD:40813739
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124
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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 chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
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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 chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
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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 chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
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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 chr20:4,763,033...4,772,141
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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 chr20:4,776,547...4,781,574
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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 9:83,406,427...83,417,238
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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 chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056
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Smad4
SMAD family member 4
ISO
protein:increased expression:liver:
RGD
PMID:29924446
RGD:21066342
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684
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Spp1
secreted phosphoprotein 1
treatment
ISO
DNA:SNPs:promoter:-443C>T, -1748G>A (human)
RGD
PMID:15868370
RGD:1581374
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820
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Stat3
signal transducer and activator of transcription 3
severity
ISO
RGD
PMID:17318196
RGD:8694293
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359
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Tlr3
toll-like receptor 3
treatment severity disease_progression susceptibility
ISO
DNA:SNP:cds:p.Leu412Phe(human) DNA:SNP: :rs13126816 (human) DNA:SNP: :rs3775290(human) treatment:peginterferon plus ribavirin.
RGD
PMID:23240626 PMID:28480979 PMID:23220997 PMID:29860675 PMID:30321082 PMID:19674283 More...
RGD:21079422 , RGD:21079435 , RGD:21079430 , RGD:21079428 , RGD:21079427 , RGD:21079423
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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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 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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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 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
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Tnf
tumor necrosis factor
treatment severity
ISO
protein:increased expression:serum (human) protein:increased expression:plasma (human)
RGD
PMID:9047083 PMID:25708446 PMID:9440625
RGD:14995307 , RGD:38456002 , RGD:14995439
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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Tnfrsf1a
TNF receptor superfamily member 1A
treatment
ISO
RGD
PMID:21152182
RGD:8661764
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
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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 4:156,143,815...156,171,292
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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 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
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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 1:89,268,721...89,296,619
Ensembl chr 1:89,268,644...89,296,613
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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 5:142,661,199...142,669,985
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Abcc2
ATP binding cassette subfamily C member 2
susceptibility no_association
ISO
DNA:polymorphisms,haplotype:promoter:g.-1774delG,g.-1549G>A(human) DNA:SNPs:multiple:
RGD
PMID:17502832 PMID:22178260
RGD:14700816 , RGD:14700817
NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:252,614,017...252,673,471
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
IDA
DNA:hypermethylation:promoter
RGD
PMID:23619520
RGD:14700910
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:205,267,505...205,293,495
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
IDA
RGD
PMID:16140414
RGD:2316848
NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:29,720,553...29,754,533
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Lpar1
lysophosphatidic acid receptor 1
ISO
protein:increased expression:liver (mouse)
RGD
PMID:12201952
RGD:10054288
NCBI chr 5:78,024,139...78,147,071
Ensembl chr 5:78,024,139...78,142,188
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Mir22
microRNA 22
ISO
in male; RNA:increased expression:liver:
RGD
PMID:21750200
RGD:14700876
NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,805,331...60,805,425
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all