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.
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
associated with COVID-19, DNA:polymorphism:cds:allele A (human)
RGD
PMID:32379894
RGD:35668862
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Afp
alpha-fetoprotein
IEP
protein:increased expression:serum, liver oval cell
RGD
PMID:2459091
RGD:126848736
NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21851314
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Atp7b
ATPase copper transporting beta
ISO IAGP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14574444 PMID:15135151 PMID:3429843 PMID:3392951
RGD:1302497 , RGD:25823153
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Atp7bhts
ATPase copper transporting beta; hepatitis
IAGP
RGD
PMID:3429843 PMID:3392951
RGD:1302497 , RGD:25823153
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1937386
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccne1
cyclin E1
ISO
RGD
PMID:29551768
RGD:153297807
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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Cd1d1
CD1d1 molecule
ameliorates
ISO
RGD
PMID:24058536
RGD:127345120
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Enpp2
ectonucleotide pyrophosphatase/phosphodiesterase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17850827
NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827
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F2r
coagulation factor II (thrombin) receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21907177
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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F5
coagulation factor V
treatment severity
ISO IEP
protein:decreased expression:plasma (human)
RGD
PMID:1903342 PMID:15340576
RGD:14700657 , RGD:14700682
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Faslg
Fas ligand
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19706026 PMID:28406481
RGD:14401591
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fcgr2b
Fc gamma receptor 2B
severity
ISO
RGD
PMID:17322382
RGD:11344954
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
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Gnmt
glycine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21137059
NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
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Golm1
golgi membrane protein 1
ISO
protein:increased expression:serum
RGD
PMID:21140449
RGD:401827118
NCBI chr17:4,995,925...5,044,329
Ensembl chr17:4,996,104...5,034,057
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Gzmb
granzyme B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19706026
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:14512878
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Ifng
interferon gamma
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:3091246
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
RGD
PMID:29551768 PMID:25173965
RGD:153297807 , RGD:153305943
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12243603
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Keap1
Kelch-like ECH-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20404090
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Lipc
lipase C, hepatic type
IDA
protein:reduced expression:plasma (rat)
RGD
PMID:7078435
RGD:2308799
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Mapk8
mitogen-activated protein kinase 8
ISO
RGD
PMID:25173965
RGD:153305943
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mapk9
mitogen-activated protein kinase 9
ISO
RGD
PMID:25173965
RGD:153305943
NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
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Nos2
nitric oxide synthase 2
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:21913985
RGD:6906896
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nr5a2
nuclear receptor subfamily 5, group A, member 2
treatment
ISO
RGD
PMID:28406481
RGD:14401591
NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
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Ogg1
8-oxoguanine DNA glycosylase
IEP
RGD
PMID:14633694
RGD:8657400
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20561897
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pdcd1
programmed cell death 1
ISO
protein:increased expression: leukocyte
RGD
PMID:19739236
RGD:40818425
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pdcd10
programmed cell death 10
ISO
protein:increased expression:liver (human)
RGD
PMID:32186778
RGD:401827111
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Sparc
secreted protein acidic and cysteine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23408952
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15712659
RGD:1581383
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tf
transferrin
IDA ISO
protein:decreased modification:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21907177 PMID:16480686
RGD:1601541
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Ace
angiotensin I converting enzyme
treatment
IEP
RGD
PMID:31385307
RGD:25671455
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Arid1a
AT-rich interaction domain 1A
exacerbates
ISO
RGD
PMID:26569409
RGD:11344640
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Ccr5
C-C motif chemokine receptor 5
disease_progression
ISO
RGD
PMID:16175603
RGD:14401740
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd1d1
CD1d1 molecule
ameliorates
ISO
RGD
PMID:11970881
RGD:127345111
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Faslg
Fas ligand
IEP ISO
mRNA:increased expression:liver protein:increased expression:serum:
RGD
PMID:11290807 PMID:10950056
RGD:14401580 , RGD:14700697
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Il4
interleukin 4
IDA
RGD
PMID:9367542
RGD:8142397
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
disease_progression
ISO
protein:increased expression:blood serum (mouse)
RGD
PMID:26569409
RGD:11344640
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mir223
microRNA 223
treatment
ISO
RGD
PMID:31585800
RGD:21408547
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Nos2
nitric oxide synthase 2
IDA
RGD
PMID:21913985
RGD:6906896
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nthl1
nth-like DNA glycosylase 1
IEP
RGD
PMID:20033472
RGD:11568659
NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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Tnf
tumor necrosis factor
treatment disease_progression
IMP ISO
protein:increased expression:blood serum (mouse)
RGD
PMID:15476865 PMID:26569409
RGD:14688052 , RGD:11344640
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tsc2
TSC complex subunit 2
IEP
RGD
PMID:20033472
RGD:11568659
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Vdr
vitamin D receptor
treatment
ISO
RGD
PMID:20523341
RGD:14401751
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Abcb11
ATP binding cassette subfamily B member 11
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Agt
angiotensinogen
ISO
mRNA:decreased expression:liver
RGD
PMID:17258719
RGD:1601135
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Alb
albumin
severity
ISO
protein:increased expression, modification:urine
RGD
PMID:29369844
RGD:14694842
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Ccl2
C-C motif chemokine ligand 2
severity
ISO
RNA:increased expression:liver:
RGD
PMID:24429361 PMID:21826694 PMID:10446112
RGD:14975280 , RGD:14995491 , RGD:14995467
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl3
C-C motif chemokine ligand 3
severity
ISO
RGD
PMID:10446112
RGD:14995467
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccl5
C-C motif chemokine ligand 5
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12586603 PMID:31258651
RGD:14995304
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:1670041
RGD:5688335
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cpt1a
carnitine palmitoyltransferase 1A
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Cyp7a1
cytochrome P450 family 7 subfamily A member 1
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
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Ddr1
discoidin domain receptor tyrosine kinase 1
disease_progression severity
ISO
mRNA:increased expression:liver (mouse) mRNA:increased expression:liver (human)
RGD
PMID:33173221 PMID:33173221
RGD:151347691 , RGD:151347691
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Fas
Fas cell surface death receptor
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fgf19
fibroblast growth factor 19
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287
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Icam1
intercellular adhesion molecule 1
severity
ISO
protein:increased expression:hepatocyte
RGD
PMID:1347281
RGD:14402038
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il13
interleukin 13
IEP
mRNA:increased expression:liver
RGD
PMID:16698589
RGD:1581860
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il18
interleukin 18
severity
ISO
associated alcoholic liver cirrhosis; protein:increased expression:plasma:
RGD
PMID:15566508
RGD:14696666
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Mir155
microRNA 155
IEP
RNA:increased expression:liver
RGD
PMID:32317960
RGD:151347420
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Nfkb1
nuclear factor kappa B subunit 1
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nfkbia
NFKB inhibitor alpha
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nlrp3
NLR family, pyrin domain containing 3
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nr0b2
nuclear receptor subfamily 0, group B, member 2
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Ppara
peroxisome proliferator activated receptor alpha
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Slc10a1
solute carrier family 10 member 1
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
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Socs1
suppressor of cytokine signaling 1
IEP
mRNA:decreased expression:liver
RGD
PMID:32317960
RGD:151347420
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Srebf1
sterol regulatory element binding transcription factor 1
treatment
IEP
RGD
PMID:27939985
RGD:15036816
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Sts
steroid sulfatase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26220752
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
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Sult1e1
sulfotransferase family 1E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26220752
NCBI chr14:20,422,324...20,439,562
Ensembl chr14:20,422,324...20,439,275
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Tnf
tumor necrosis factor
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12586603 PMID:27939985
RGD:15036816
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:27980102
RGD:14995459
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15368307
RGD:5688161
NCBI chr 8:123,556,286...123,561,841
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Cp
ceruloplasmin
IEP
protein:increased expression:lymph, plasma
RGD
PMID:19526092
RGD:2314684
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Cps1
carbamoyl-phosphate synthase 1
IEP
protein:increased expression:plasma
RGD
PMID:8821709
RGD:2303519
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
mRNA:increased expression:liver
RGD
PMID:18642776
RGD:2307010
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl2
C-X-C motif chemokine ligand 2
IEP
mRNA:increased expression:liver
RGD
PMID:18642776
RGD:2307010
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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H19
H19 imprinted maternally expressed transcript
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18559427
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Icam1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:21695461
RGD:14402037
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Lcn2
lipocalin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18559427
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Met
MET proto-oncogene, receptor tyrosine kinase
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:8781331
RGD:2317559
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Otc
ornithine transcarbamylase
IEP
protein:increased expression:plasma
RGD
PMID:8821709
RGD:2303519
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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Slco1b2
solute carrier organic anion transporter family member 1B2
IEP
RGD
PMID:12127424
RGD:2303132
NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
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Tff3
trefoil factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18559427
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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Ubd
ubiquitin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18559427
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:19222997
RGD:5685610
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Cd40
CD40 molecule
severity
ISO
RGD
PMID:21360722
RGD:5490303
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Rnasel
ribonuclease L
disease_progression
ISO
associated with Coronaviridae Infections associated with Middle East respiratory syndrome
RGD
PMID:28003490 PMID:27025250
RGD:40902624 , RGD:40902807
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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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 chr11:77,721,912...77,735,564
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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 5:63,889,046...63,902,116
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C1s
complement C1s
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11390518
NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
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 chr10:68,322,829...68,327,377
G
Cd274
CD274 molecule
ISO
RGD
PMID:19781375
RGD:41412171
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
G
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 7:113,908,947...113,922,084
G
Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
protein:increased expression:serum:
RGD
PMID:10435724
RGD:11353781
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
G
Dnase1
deoxyribonuclease 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:28263100
RGD:38500241
NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
G
F2
coagulation factor II, thrombin
disease_progression
ISO
RGD
PMID:21711423 PMID:20821236
RGD:5147750 , RGD:5147775
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Fas
Fas cell surface death receptor
treatment
ISO
protein:increased expression:lymphocyte:
RGD
PMID:28551553 PMID:26429926
RGD:14700710 , RGD:14700711
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
treatment
ISO
RGD
PMID:28551553
RGD:14700710
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Hras
HRas proto-oncogene, GTPase
ISO
human gene in a mouse model
RGD
PMID:9195373
RGD:14694814
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il13
interleukin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
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 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il21
interleukin 21
exacerbates
ISO
protein:increased expression:blood serum, peripheral blood mononuclear cell (human)
RGD
PMID:27386263
RGD:127285554
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il22
interleukin 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
G
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 chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il5
interleukin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il9
interleukin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
G
Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Mir155
microRNA 155
treatment
ISO
RGD
PMID:30290123 PMID:29420849
RGD:21081535 , RGD:21409750
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
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:61,141,887...61,141,996
G
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 9:94,418,791...94,431,937
G
Pdcd1lg2
programmed cell death 1 ligand 2
ISO
RGD
PMID:19781375
RGD:41412171
NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938
G
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 3:108,388,245...108,413,236
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism (human)
RGD
PMID:20007077 PMID:17050030
RGD:5147584 , RGD:5147634
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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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 chr20:4,774,650...4,780,618
G
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 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:serum (human)
RGD
PMID:9047083
RGD:14995307
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Vdr
vitamin D receptor
susceptibility
ISO
DNA:polymorphism: :
GAD RGD
PMID:15118671 PMID:15683428
RGD:1331525 , RGD:14402024
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:plasma:
RGD
PMID:26615570
RGD:11538286
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Zfhx3
zinc finger homeobox 3
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20534899
RGD:151361169
NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
G
Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
G
Atox1
antioxidant 1 copper chaperone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr10:39,564,855...39,579,892
Ensembl chr10:39,564,857...39,579,950
G
Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
G
Casp3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
G
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
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 1:202,113,804...202,134,915
G
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 chr14:96,880,463...96,984,501
G
Cox17
cytochrome c oxidase copper chaperone COX17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr11:62,400,733...62,406,507
G
Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
G
Gnmt
glycine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19146867
NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
G
Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Krt19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
G
Krt7
keratin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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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 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
G
Mir21
microRNA 21
ISO
RNA:increased expression:plasma
RGD
PMID:21749846
RGD:41404642
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Mki67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
G
Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
G
Nos2
nitric oxide synthase 2
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:21947361
RGD:5509580
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Plat
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:1909901
RGD:11541068
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
Shc1
SHC adaptor protein 1
IEP
protein:increased expression, increased phosphorylation:hepatocyte
RGD
PMID:15375560
RGD:1643188
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
G
Smad2
SMAD family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
G
Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25053573
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Adar
adenosine deaminase, RNA-specific
treatment
ISO
DNA:SNP:enhancer: (rs4845384) (human)
RGD
PMID:24351124
RGD:125097515
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
G
Apoa1
apolipoprotein A1
ISO
protein:decreased expression mRNA, protein:decreased expression:liver, serum (human) protein:decreased expression:plasma (human)
RGD
PMID:21726101 PMID:27015844 PMID:25115832
RGD:5508214 , RGD:25671432 , RGD:25671433
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Apoe
apolipoprotein E
susceptibility
ISO
DNA:missense mutations:cds:p.C112R, p.R158C (human)
RGD
PMID:20961200
RGD:14401585
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Birc3
baculoviral IAP repeat-containing 3
ameliorates
ISO
RGD
PMID:25902529
RGD:152998939
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
G
C2
complement C2
susceptibility
IAGP
DNA:SNP:exon: p.Glu318Asp (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
G
Ccl2
C-C motif chemokine ligand 2
ISO
protein:decreased expression:serum:
RGD
PMID:26281331
RGD:14995947
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl5
C-C motif chemokine ligand 5
severity
ISO
RGD
PMID:17711627
RGD:14995339
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17657819
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
G
Cd163
CD163 molecule
ISO
protein:increased expression:blood serum (human)
RGD
PMID:26339412
RGD:11251207
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Cd1d1
CD1d1 molecule
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)
RGD
PMID:29643189
RGD:127345114
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
G
Cd274
CD274 molecule
treatment
ISO
protein:increased expression:regulatory T cell
RGD
PMID:26266813 PMID:20460044
RGD:11344683 , RGD:41412166
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Cemip2
cell migration inducing hyaluronidase 2
susceptibility
ISO
DNA:SNP:exon: p.Ser1254Asn (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr 1:219,330,295...219,407,760
Ensembl chr 1:219,337,985...219,407,760
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP: :-318C>T(human)
RGD
PMID:16489681
RGD:14398727
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium
RGD
PMID:30660173 PMID:18234638
RGD:27095888 , RGD:27095951
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
RGD
PMID:26234401
RGD:32716425
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
G
Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell, liver:
RGD
PMID:18673437 PMID:21489307
RGD:38548921 , RGD:38549358
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Gpt
glutamic--pyruvic transaminase
treatment disease_progression
ISO
RGD
PMID:29279233 PMID:28007350
RGD:14975159 , RGD:14975240
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
protein:increased expression:serum (human)
RGD
PMID:28465467
RGD:39939037
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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
G
Ifng
interferon gamma
ISO
protein:decreased expression:serum (human)
RGD
PMID:26684441 PMID:28465467
RGD:14974255 , RGD:39939037
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Ifnl1
interferon, lambda 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21957142
RGD:126848748
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
G
Il12a
interleukin 12A
ISO
mRNA:increased expression:liver
RGD
PMID:26062743
RGD:11097839
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
G
Il12b
interleukin 12B
susceptibility
ISO
DNA:SNP:3'utr: (rs3212227)
RGD
PMID:25469587
RGD:11074616
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Il18
interleukin 18
disease_progression
ISO
DNA:SNP:promoter:-607C>A(human)
RGD
PMID:27470888
RGD:14696663
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
protein:increased expression:serum:
RGD
PMID:27180842 PMID:28381383
RGD:39457933 , RGD:39938857
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il2
interleukin 2
susceptibility
ISO
DNA:polymorphism:promoter:-385T>G(human)
RGD
PMID:19105930
RGD:14747034
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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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 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il33
interleukin 33
severity treatment
ISO
RGD
PMID:27180842 PMID:25714983
RGD:39457933 , RGD:39938954
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il4
interleukin 4
disease_progression treatment
ISO
DNA:SNP:promoter:-590C>T (human)
RGD
PMID:26281177 PMID:21331994
RGD:14696675 , RGD:14696697
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:serum
RGD
PMID:24836184
RGD:40903002
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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Jak1
Janus kinase 1
disease_progression
ISO
DNA:SNPs: :rs4244165, rs17127024 (human)
RGD
PMID:22901011
RGD:19165132
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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Keap1
Kelch-like ECH-associated protein 1
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:22459801
RGD:6892954
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Klrc1
killer cell lectin like receptor C1
severity
ISO
protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:28328926
RGD:40400737
NCBI chr 4:163,142,142...163,152,425
Ensembl chr 4:163,147,189...163,152,425
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Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNP:intron 1:(rs2617160) (human)
RGD
PMID:20648603
RGD:39018553
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Krt18
keratin 18
disease_progression severity
ISO
protein:increased phosphorylation:liver (human) protein:increased degradation:serum (human)
RGD
PMID:20334631 PMID:28579343
RGD:18337487 , RGD:18337494
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Lepr
leptin receptor
ISO
mRNA:altered exression:PBMC,liver
RGD
PMID:17060687
RGD:21079470
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Mbl2
mannose binding lectin 2
severity
ISO
DNA:haplotype: :
RGD
PMID:27824315
RGD:14696831
NCBI chr 1:228,016,439...228,024,736
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Mir106b
microRNA 106b
severity
IEP
associated with hepatocellular carcinoma;miRNA:increased expression:liver (human)
RGD
PMID:27298561
RGD:15042853
NCBI chr12:17,043,344...17,043,425
Ensembl chr12:17,043,344...17,043,425
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Mir146a
microRNA 146a
ISO
mRNA:increased expression:T cell (human)
RGD
PMID:23698745
RGD:126925146
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir155
microRNA 155
ISO
RGD
PMID:30735455
RGD:21081537
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28871230
RGD:150340590
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Ncr1
natural cytotoxicity triggering receptor 1
severity disease_progression
ISO
protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:Peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:28328926 PMID:26291078 PMID:29625837
RGD:40400737 , RGD:40818237 , RGD:39128177
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Nfkbia
NFKB inhibitor alpha
disease_progression
ISO
DNA:enhancers: :(rs2233406, rs2233409) (human)
RGD
PMID:29093318
RGD:127285389
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Pdcd1
programmed cell death 1
disease_progression no_association
ISO
DNA:SNP:3' UTR:rs10204525(human) protein:altered expression:serum: DNA:SNP:exon: DNA:SNPs::+7146 G>A,+7209 C>T(human)
RGD
PMID:30016557 PMID:28983583 PMID:20700634 PMID:25736598
RGD:40818231 , RGD:40818415 , RGD:40818262 , RGD:40818233
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Ppp1r15a
protein phosphatase 1, regulatory subunit 15A
ISO
mRNA,protein:increased expression:liver
RGD
PMID:26234401
RGD:32716425
NCBI chr 1:96,000,053...96,003,128
Ensembl chr 1:96,000,058...96,003,171
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:31100710
RGD:150530465
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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RT1-Ba
RT1 class II, locus Ba
treatment susceptibility disease_progression
ISO
DNA:polymorphisms: : DNA: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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
treatment no_association
ISO
DNA:polymorphisms (human) DNA:polymorphism: :HLA-DQB1*07(human) DNA:SNP: :rs2856718 (human) DNA:polymorphisms: :multiple
RGD
PMID:16893387 PMID:16237774 PMID:28267888 PMID:29287219
RGD:5147637 , RGD:36049762 , RGD:14974232 , RGD:14865012
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
disease_progression susceptibility
ISO
DNA:haplotype:: DNA:polymorphisms: :
RGD
PMID:16883532 PMID:16237774
RGD:14398840 , RGD:36049762
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Ha
RT1 class II, locus Ha
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 chr20:4,760,118...4,770,244
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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 chr20:4,774,650...4,780,618
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Stat2
signal transducer and activator of transcription 2
ISO
mRNA:decreased expression:monocyte (human)
RGD
PMID:30842274
RGD:41789632
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNPs, haplotypes:multiple
RGD
PMID:25829184
RGD:25671420
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Sting1
stimulator of interferon response cGAMP interactor 1
susceptibility
ISO
DNA:hypermethylation:promoter
RGD
PMID:30593207
RGD:39128221
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
mRNA:decreased expression:blood
RGD
PMID:21843574
RGD:6482248
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNP, haplotype: :rs10069690,rs2242652(human)
RGD
PMID:29507683
RGD:14696786
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tgfb1
transforming growth factor, beta 1
no_association
ISO
DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human) DNA:SNPs:promoter:-509C>T (rs1800469) (human)
RGD
PMID:28700046 PMID:28700046
RGD:14995436 , RGD:14995436
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
treatment disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:28414577 PMID:25771704 PMID:25337250
RGD:15090812 , RGD:15090828 , RGD:15090826
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
susceptibility
ISO
DNA:snp: :rs3775290(human) DNA:SNP, haplotype: :1234C>T (human)
RGD
PMID:26024592 PMID:23076446
RGD:21079416 , RGD:21079425
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
ISO
protein:increased expression:serum:
RGD
PMID:28414577
RGD:15090812
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
severity
ISO
mRNA, protein: decreased expression:liver, CD14-positive monocyte (human) protein:increased expression:peripheral blood mononuclear cell (human) protein: increased expression:peripheral blood mononuclear cell (human) mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human)
RGD
PMID:24622882 PMID:27126946 PMID:18215354 PMID:19513613 PMID:30453064
RGD:18337464 , RGD:18337474 , RGD:18337472 , RGD:18337470 , RGD:18337467
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnfaip3
TNF alpha induced protein 3
susceptibility
ISO
DNA:SNP,haplotypes: (rs148314165, rs200820567) (human)
RGD
PMID:28784141
RGD:151347613
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tnfsf13b
TNF superfamily member 13b
treatment
ISO
RGD
PMID:30660173
RGD:27095888
NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
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Ube2l3
ubiquitin-conjugating enzyme E2L 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24162738
NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862
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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 chr19:36,630,254...36,881,771
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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 treatment disease_progression
ISO
DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) DNA:SNP:cds:c.1331T>C (rs2287622)(human)
RGD
PMID:29755014 PMID:29091211 PMID:22681771
RGD:14402415 , RGD:14402417 , RGD:14402416
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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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:17106926 PMID:27147779
RGD:25671451 , RGD:40400711 , RGD:25671456
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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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 2:175,138,391...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, protein:increased expression:B cell, CD19-positive (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26219420 PMID:20189883 PMID:26946048
RGD:30296664 , RGD:32716380 , RGD:32716369
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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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 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 chr10:68,322,829...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: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
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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
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) 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
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
treatment no_association susceptibility
ISO
protein:increased expression:serum: DNA:SNP:promoter: rs3021094, rs3024498 (human) DNA:SNP:promoter:-592C>A (rs1800872) (human) DNA:polymorphism:promoter:
RGD
PMID:26095186 PMID:25708446 PMID:29247709 PMID:29247709 PMID:26095186
RGD:14700655 , RGD:38456002 , RGD:14975141 , RGD:14975141 , RGD:14700655
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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:25708446 PMID:23591975
RGD:14696678 , RGD:38456002 , RGD:14696686
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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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:decreased expression:liver,natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:25965701 PMID:25148254 PMID:21168454
RGD:39018562 , RGD:40813739 , RGD:40400738
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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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 7:133,157,486...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:g.-123C>A, -88G>T(human) DNA:SNPs:promoter: (rs2071430, rs17000900) (human)
RGD
PMID:28036111 PMID:25239021 PMID:29271328
RGD:40400915 , RGD:11067846 , RGD:126777679
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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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 1:69,616,601...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:23813131 PMID:16322112 PMID:21695691 PMID:20550548
RGD:40400738 , RGD:40818297 , RGD:40818296 , RGD:40818295 , RGD:40818079
NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
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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 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 chr16:46,821,980...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
treatment severity
ISO
protein:increased expression:serum (human) protein:increased expression:plasma (human)
RGD
PMID:9047083 PMID:25708446 PMID:9440625
RGD:14995307 , RGD:38456002 , RGD:14995439
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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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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 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
IDA
DNA:hypermethylation:promoter
RGD
PMID:23619520
RGD:14700910
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
IDA
RGD
PMID:16140414
RGD:2316848
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Lpar1
lysophosphatidic acid receptor 1
ISO
protein:increased expression:liver (mouse)
RGD
PMID:12201952
RGD:10054288
NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
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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 chr10:60,307,039...60,307,133
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Ace
angiotensin I converting enzyme
ISO
DNA:insertion/deletion:intron 16:
RGD
PMID:12458570
RGD:39939119
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
disease_progression
ISO
RGD
PMID:26347518
RGD:40818419
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Pdcd1
programmed cell death 1
disease_progression
ISO
RGD
PMID:26347518
RGD:40818419
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum (human)
RGD
PMID:9047083
RGD:14995307
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:missense mutation:cds:p.R194W (rs1799782) (human) DNA:SNP:intron: (rs1001581) (human)
RGD
PMID:22135187 PMID:29558945
RGD:15014793 , RGD:15036793
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Aicda
activation-induced cytidine deaminase
treatment
ISO
RGD
PMID:28063995
RGD:30310232
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Car9
carbonic anhydrase 9
disease_progression
ISO
DNA:SNP::rs2071676(human)
RGD
PMID:32297155
RGD:40903057
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:21914058
RGD:5683873
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccl5
C-C motif chemokine ligand 5
disease_progression susceptibility
ISO
DNA:polymorphisms:promoter:-403G>A,-28C>G (human) DNA:polymorphisms: :
RGD
PMID:30536991 PMID:23336202 PMID:22576913 PMID:19017985
RGD:14401739 , RGD:14995331 , RGD:14995330 , RGD:14995327
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccnd2
cyclin D2
disease_progression
ISO
mRNA:decreased expression:Peripheral Blood Mononuclear Cell DNA:SNP, haplotype:exon :rs1049606(human)
RGD
PMID:33320844 PMID:20414251
RGD:151664743 , RGD:151664744
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:19185001
RGD:6893388
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
susceptibility disease_progression
ISO
DNA:SNP: : rs1799987(human) DNA:polymorphism:promoter:59029A>G,59353C>T DNA:polymorphism: :DNA:deletion:Cds:
RGD
PMID:29239247 PMID:17063508 PMID:27892677
RGD:14401574 , RGD:14401727 , RGD:14401575
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd68
Cd68 molecule
ISO
associated with inflammation;protein:increased expression:liver (human)
RGD
PMID:9699943
RGD:40925917
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
disease_progression
ISO
DNA:SNPs: :-1722T>C(rs733618), 49A>G(rs231775)6230G>A(rs3087243)(human)
RGD
PMID:15452244
RGD:14398731
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctnnb1
catenin beta 1
ISO
associated with hepatocellular carcinoma;protein:increased expression:liver (human)
RGD
PMID:25536643
RGD:150429591
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cxcl10
C-X-C motif chemokine ligand 10
disease_progression
ISO
DNA:SNP:promoter:-201G>A(human)
RGD
PMID:18325387
RGD:27095959
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
severity
ISO
DNA:SNP:promoter: -1260C>A (rs10877012) (human)
RGD
PMID:22963605
RGD:25671410
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Dock8
dedicator of cytokinesis 8
disease_progression
ISO
DNA:SNP::rs506121(human)
RGD
PMID:32297155
RGD:40903057
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Eftud2
elongation factor Tu GTP binding domain containing 2
susceptibility
ISO
RGD
PMID:34436958
RGD:155791665
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
disease_progression
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:liver:
RGD
PMID:12526294
RGD:14700675
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
protein:increased expression:liver:
RGD
PMID:12526294
RGD:14700675
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fbxo11
F-box protein 11
ISO
associated with hepatocellular carcinoma;protein:increased expression:liver (human)
RGD
PMID:29603830
RGD:152025266
NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
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Foxp3
forkhead box P3
ISO
associated with hepatocellular carcinoma; protein:increased expression:liver
RGD
PMID:21086571
RGD:38548919
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15504288
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Ifna2
interferon alpha 2
treatment
ISO
RGD
PMID:8509638
RGD:21406432
NCBI chr 5:103,258,617...103,259,195
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Ifnar2
interferon alpha and beta receptor subunit 2
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16757563 PMID:25741868 PMID:28492532
NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
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Ifnb1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15994231
NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15994231 PMID:20610715
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ifngr1
interferon gamma receptor 1
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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Il10
interleukin 10
treatment no_association
ISO
DNA:SNP, haplotypes:promoter:-1082G>A (rs1800896) (human) DNA:SNPs:promoter:-592C>A (rs1800872), -819C>A (rs1800871) (human)
RGD
PMID:27644568 PMID:27644568
RGD:14975150 , RGD:14975150
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il10rb
interleukin 10 receptor subunit beta
susceptibility
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16757563 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29248579
NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
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Il18
interleukin 18
susceptibility disease_progression
ISO
associated with hepatocellular carcinoma; DNA:SNP:promoter:-137G>C(rs187238)(human) DNA:SNPs:promoter,intron,exon:���148G>C, +8925C>G,+13925A>C(human)
RGD
PMID:27429592 PMID:19466545
RGD:14695540 , RGD:14696658
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il2
interleukin 2
ISO
RGD
PMID:25968473
RGD:14747044
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21
interleukin 21
ISO
mRNA:increased expression:spleen (C57BL/6N mouse)
RGD
PMID:29544722
RGD:127285375
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il27
interleukin 27
exacerbates
ISO
mRNA:increased expression:blood plasma (human) protein:increased expression:blood serum (human)
RGD
PMID:26925776 PMID:22766719 PMID:19081304
RGD:126790497 , RGD:126790543 , RGD:39128258
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il2rb
interleukin 2 receptor subunit beta
disease_progression
ISO
RGD
PMID:29307521
RGD:42724467
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Il4
interleukin 4
treatment
ISO
DNA:SNPs: :rs2243250,rs2227284(human)
RGD
PMID:28051794
RGD:14696676
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
DNA:SNP:promoter:-174C>G (human)
RGD
PMID:27268603
RGD:14975295
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf1
interferon regulatory factor 1
disease_progression
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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Kat2a
lysine acetyltransferase 2A
treatment
ISO
RGD
PMID:23913178
RGD:9590262
NCBI chr10:85,632,216...85,640,561
Ensembl chr10:85,632,216...85,640,166
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Klrk1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:17991774 PMID:28318408
RGD:38676490 , RGD:39128174
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
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Map4k4
mitogen-activated protein kinase kinase kinase kinase 4
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human)
RGD
PMID:21196414
RGD:151347673
NCBI chr 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698
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Mbl2
mannose binding lectin 2
disease_progression
ISO
DNA:haplotype:promoter,exon:
RGD
PMID:16231358
RGD:14696834
NCBI chr 1:228,016,439...228,024,736
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Mir100
microRNA 100
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
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Mir122
microRNA 122
severity
ISO
CTD Direct Evidence: marker/mechanism miRNA:decreased expression:liver
CTD RGD
PMID:28545106 PMID:22105316
RGD:14401605
NCBI chr18:58,758,703...58,758,787
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Mir125b2
microRNA 125b-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:16,245,620...16,245,707
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Mir146a
microRNA 146a
ameliorates
ISO
RGD
PMID:27210312
RGD:126925163
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir148a
microRNA 148a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 4:80,333,762...80,333,858
Ensembl chr 4:80,333,762...80,333,858
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Mir155
microRNA 155
ISO
RGD
PMID:29349567
RGD:21408592
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir190
microRNA 190
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 8:67,850,987...67,851,071
Ensembl chr 8:67,850,987...67,851,071
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Mir192
microRNA 192
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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Mir193b
microRNA 193b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824
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Mir194-2
microRNA 194-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845
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Mir204
microRNA 204
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
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Mir28
microRNA 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:75,975,523...75,975,608
Ensembl chr11:75,975,523...75,975,608
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Mir365b
microRNA 365b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr10:64,686,255...64,686,340
Ensembl chr10:64,686,252...64,686,351
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Mir455
microRNA 455
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 5:76,689,313...76,689,390
Ensembl chr 5:76,689,313...76,689,390
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Mir99a
microRNA 99a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
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Mirlet7c1
microRNA let-7c-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:16,201,163...16,201,256
Ensembl chr11:16,201,158...16,201,265
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:23157389
RGD:126925755
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Mthfr
methylenetetrahydrofolate reductase
susceptibility no_association
ISO
DNA:transition:cds:g.677C>T (human) DNA:missense mutations:cds:g.1298A>C, g.2756A>G
RGD
PMID:18222012 PMID:18222012
RGD:38508898 , RGD:38508898
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
associated with hepatocellular carcinoma;protein:decreased expression:liver (human)
RGD
PMID:28370778
RGD:150520169
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human)
RGD
PMID:25223483
RGD:40902986
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Pdcd1
programmed cell death 1
disease_progression susceptibility
ISO
DNA:SNP: :rs2227981(human) DNA:SNPs,halptype: :rs36084323, rs2227981,rs2227982(human)
RGD
PMID:31770816 PMID:29786123 PMID:28667037
RGD:40818272 , RGD:40818423 , RGD:40818414
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Plau
plasminogen activator, urokinase
severity
ISO
protein:increased expression:plasma
RGD
PMID:18691743
RGD:6483828
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Plaur
plasminogen activator, urokinase receptor
severity
ISO
protein:increased expression:plasma
RGD
PMID:18691743
RGD:6483828
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)
RGD
PMID:25151370
RGD:151665185
NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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Prkcsh
PRKCSH beta subunit of glucosidase II
treatment
ISO
RGD
PMID:24769044
RGD:14402034
NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
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Pten
phosphatase and tensin homolog
exacerbates
ISO
mRNA:decreased expression:liver (mouse)
RGD
PMID:31604033
RGD:127285593
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Rnasel
ribonuclease L
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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RT1-Ba
RT1 class II, locus Ba
disease_progression susceptibility no_association
ISO
DNA:polymorphisms: : DNA:polymorphism: :HLA-DQA1*0102 (human) DNA:polymorphism: :rs9272346(human)
RGD
PMID:20718347 PMID:17845309 PMID:24510573 PMID:30168489
RGD:14398754 , RGD:126925986 , RGD:14398837 , RGD:14398755
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
treatment
ISO
RGD
PMID:29979894 PMID:29042702
RGD:14865006 , RGD:14865007
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Ha
RT1 class II, locus Ha
disease_progression
ISO
DNA:SNP: :rs3077(human)
RGD
PMID:27051043
RGD:14694816
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
severity susceptibility treatment disease_progression
ISO
DNA:SNPs, haplotype:3' utr:multiple (human) DNA:SNP: :rs9277535(human) DNA:SNP: :rs7770370(human) DNA:polymorphisms:3-UTR:rs9277534(human)
RGD
PMID:22496224 PMID:26197724 PMID:27051043 PMID:27083422
RGD:11553629 RGD:14694816 RGD:14694820 RGD:14694821
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human)
RGD
PMID:24317272
RGD:149735572
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Slc10a1
solute carrier family 10 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatitis B virus, resistance to
CTD ClinVar
PMID:14660639 PMID:25418280 PMID:25550158 PMID:27882152 PMID:28835676 PMID:29658451 More...
NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
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Stat4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27444301
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:27312012
RGD:39128205
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Tlr2
toll-like receptor 2
treatment
ISO
RGD
PMID:30008718
RGD:15090859
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
disease_progression susceptibility
ISO
DNA:SNPs, haplotype: rs3775291,rs5743305 (human) DNA:SNP, haplotype: rs1879026(human)
RGD
PMID:30143709 PMID:22825813
RGD:21079424 , RGD:21079431
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr9
toll-like receptor 9
susceptibility
ISO
DNA:SNP:exon:2848G>A (rs352140) (human)
RGD
PMID:25388852
RGD:18337480
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
treatment severity no_association
ISO
DNA:SNP:promoter:-857C>T (rs1799724) (human) DNA:SNPs:promoter:-863C>A, -308A>G (human) DNA:SNP:promoter:-308G>A (rs1800629) (human)
RGD
PMID:27644568 PMID:12915457 PMID:27644568
RGD:14975150 , RGD:14995438 , RGD:14975150
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trem1
triggering receptor expressed on myeloid cells 1
ISO
protein:increased expression:plasma
RGD
PMID:27328755
RGD:126925974
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
susceptibility
ISO
DNA:SNP: : rs8175347(human)
RGD
PMID:29239247
RGD:14401574
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a6
UDP glucuronosyltransferase family 1 member A6
susceptibility
ISO
DNA:SNP: : rs2070959(human)
RGD
PMID:29239247
RGD:14401574
NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Vdr
vitamin D receptor
susceptibility disease_progression
ISO
DNA:polymorphisms, hapoltype: : DNA:polymorphisms: :
RGD
PMID:16733893 PMID:19693091
RGD:14401748 , RGD:14402030
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:missense mutation, haplotype:cds:p.R399Q (human)
RGD
PMID:23454624
RGD:15036794
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zc3h12a
zinc finger CCCH type containing 12A
treatment
ISO
human gene in a mouse model
RGD
PMID:31926181
RGD:39938973
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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Afp
alpha-fetoprotein
treatment
ISO
RGD
PMID:25914481
RGD:126790581
NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
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Apoa1
apolipoprotein A1
severity
ISO
associated with liver cirrhosis; protein:decreased expression:serum (human)
RGD
PMID:19818291
RGD:25671441
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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C1qc
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35789393
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
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Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human)
RGD
PMID:27304910
RGD:14401735
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr5
C-C motif chemokine receptor 5
no_association susceptibility
ISO
DNA:deletion:cds: ClinVar Annotator: match by term: HCV, RESISTANCE TO CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:25741868 PMID:28492532 PMID:14673528 PMID:27304910 More...
RGD:14401731 , RGD:14401735
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd209d
CD209d molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27385120
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd274
CD274 molecule
ISO
protein:increased expression:dendritic cell
RGD
PMID:20513078
RGD:41410799
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd81
Cd81 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17517063
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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Cxcl10
C-X-C motif chemokine ligand 10
disease_progression treatment
ISO
protein:increased expression:serum
RGD
PMID:18775023 PMID:24668726 PMID:25512630
RGD:27095893 , RGD:27095945 , RGD:27095943
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cyp2b1
cytochrome P450, family 2, subfamily b, polypeptide 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8864187
NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052
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Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8864187
NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008
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F2
coagulation factor II, thrombin
treatment
ISO
RGD
PMID:28129465
RGD:40818432
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:liver
RGD
PMID:17414718
RGD:38456005
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Grap2
GRB2-related adaptor protein 2
severity
ISO
DNA:SNP:intron: (human)
RGD
PMID:15063762
RGD:126790487
NCBI chr 7:112,117,142...112,190,880
Ensembl chr 7:112,117,142...112,190,877
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Hfe
homeostatic iron regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15865084
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Ifnar1
interferon alpha and beta receptor subunit 1
resistance
ISO
RGD
PMID:21756311
RGD:5147491
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Hepatitis C virus infection, response to therapy of CTD Direct Evidence: marker/mechanism protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
ClinVar CTD OMIM RGD
PMID:17215375 PMID:17553896
RGD:40400745
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ifnl1
interferon, lambda 1
ISO
DNA:missense mutation, haplotype:exon (rs30461) (human)
RGD
PMID:24269996
RGD:126848746
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
ISO
associated with inherited blood coagulation disease;DNA:SNP:enhancer: (rs12979860) (human) CTD Direct Evidence: marker/mechanism associated with Beta-Thalassemia;DNA:SNPs:enhancers: (rs12979860, rs4803221, rs8099917) (human)
CTD OMIM RGD
PMID:24522196 PMID:25864220
RGD:11528544 , RGD:11528545
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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Il10
interleukin 10
no_association
ISO
protein:increased expression:serum DNA:SNPs: :multiple DNA:SNPs: :rs1800896 (human)
RGD
PMID:19302182 PMID:28340949 PMID:28340949
RGD:2308942 , RGD:14975144 , RGD:14975144
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12a
interleukin 12A
susceptibility disease_progression
ISO
DNA:SNP:3'UTR: rs568408( G>A)(human) associated with diabetes mellitus;
RGD
PMID:27819525 PMID:30243010
RGD:25440490 , RGD:25440502
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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Il13
interleukin 13
disease_progression
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896 PMID:17553896
RGD:40400745 , RGD:40400745
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il18
interleukin 18
disease_progression susceptibility treatment
ISO
DNA:SNPs:promoter:-607C>A, -137G>C(human) DNA:SNP:promoter:-607C>A (rs1946518)(human) protein:increased expression:serum: DNA:SNPs:promoter:-137G>C,-607C>A(human)
RGD
PMID:18781864 PMID:21984735 PMID:26486291 PMID:27927859 PMID:19455410
RGD:14695527 , RGD:14696657 , RGD:14696654 , RGD:14696653 , RGD:14695530
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
associated with Glomerulonephritis; protein:increased expression:serum (human)
RGD
PMID:21623661
RGD:7175316
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896
RGD:40400745
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-589C>T (human) protein:decreased expression:serum
RGD
PMID:28368861 PMID:28368861
RGD:14696680 , RGD:14696680
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
no_association
ISO
DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human) DNA:SNPs: :multiple
RGD
PMID:28340949 PMID:28340949
RGD:14975144 , RGD:14975144
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf5
interferon regulatory factor 5
treatment
ISO
mRNA:increased expression:liver
RGD
PMID:27942586 PMID:28259968
RGD:40924562 , RGD:40924642
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Irf9
interferon regulatory factor 9
ISO
protein:increased expression:liver
RGD
PMID:26216956
RGD:11074283
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
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Itpa
inosine triphosphatase
disease_progression
ISO
DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
RGD
PMID:24519039
RGD:10766473
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
susceptibility
ISO
DNA:deletion:cds
RGD
PMID:28225833
RGD:38676472
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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Klrc1
killer cell lectin like receptor C1
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer c
RGD
PMID:17553896
RGD:40400745
NCBI chr 4:163,142,142...163,152,425
Ensembl chr 4:163,147,189...163,152,425
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Klrk1
killer cell lectin like receptor K1
disease_progression
ISO
mRNA:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) associated with HIV Seropositivity;protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:26518141 PMID:27091211 PMID:27091211
RGD:11553576 , RGD:40818300 , RGD:40818300
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Krt8
keratin 8
ISO
ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to
ClinVar
PMID:11372009 PMID:15090596 PMID:15235035 PMID:25741868 PMID:28492532 PMID:33116287 More...
NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
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Ldlr
low density lipoprotein receptor
disease_progression
ISO
DNA:polymorphisms:exon, 3' utr (human)
RGD
PMID:12209363
RGD:5490246
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
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Lpl
lipoprotein lipase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17517063
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:exon: DNA:SNPs, haplotype:promoter, exon:
RGD
PMID:19703233 PMID:20570631
RGD:14696815 , RGD:14696832
NCBI chr 1:228,016,439...228,024,736
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Mir146a
microRNA 146a
exacerbates
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:28587864
RGD:126925170
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir181c
microRNA 181c
IEP
miRNA:decreased expression:liver (human)
RGD
PMID:24789793
RGD:15042895
NCBI chr19:23,983,523...23,983,628
Ensembl chr19:23,983,523...23,983,628
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Mir21
microRNA 21
disease_progression
ISO
RNA:increased expression:liver
RGD
PMID:30938910 PMID:20625373
RGD:41404662 , RGD:41404667
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:23157389
RGD:126925755
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
mRNA,protein:increased expression:liver
RGD
PMID:23108410
RGD:14695017
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Ncr1
natural cytotoxicity triggering receptor 1
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896
RGD:40400745
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Ncr3
natural cytotoxicity triggering receptor 3
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896
RGD:40400745
NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
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Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
DNA:deletion:promoter: (rs28362491) (human)
RGD
PMID:30056167
RGD:40902826
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12937158 PMID:17299060
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdcd1
programmed cell death 1
disease_progression
ISO
DNA:SNP:3' UTR:rs10204525(human)
RGD
PMID:25747035
RGD:11052797
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Ppia
peptidylprolyl isomerase A
ameliorates
ISO
RGD
PMID:23903655
RGD:150429630
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Ptx3
pentraxin 3
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26400151
RGD:11554449
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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Rig1
RNA sensor RIG-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20170495
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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RT1-Ba
RT1 class II, locus Ba
disease_progression
ISO
associated with thalassemia;DNA:polymorphism, haplotype: :
RGD
PMID:29248968 PMID:25970464
RGD:14398753 , RGD:14401560
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility disease_progression
ISO
associated with Beta-Thalassemia DNA:polymorphism:cds:HLA-DQB1*03, *0501 (human)
RGD
PMID:21535077 PMID:22155912 PMID:27599887 PMID:27340680
RGD:40902997 , RGD:11041750 , RGD:14928327 , RGD:14928326
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*11 (human)
RGD
PMID:21535077
RGD:40902997
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-M3-1
RT1 class Ib, locus M3, gene 1
ISO
RGD
PMID:19775370
RGD:5144114
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human)
RGD
PMID:24317272
RGD:149735572
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Scarb1
scavenger receptor class B, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17517063
NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased expression:liver
RGD
PMID:26216956
RGD:11074283
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat2
signal transducer and activator of transcription 2
ISO
protein:increased expression:liver
RGD
PMID:26216956
RGD:11074283
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:24634940
RGD:14696782
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tlr3
toll-like receptor 3
disease_progression severity susceptibility
ISO
associated with glomerulonephritis;mRNA:increased expression:liver: DNA:SNPs: :rs3775290,rs3775291,rs5743312 (human) associated with liver transplant;DNP:SNP:cds:p.Leu412Phe(human) DNA:SNP:cds:p.Leu412Phe(human)
RGD
PMID:21623661 PMID:29947302 PMID:27101936 PMID:23240626
RGD:7175316 , RGD:21079437 , RGD:21079429 , RGD:21079422
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr7
toll-like receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27385120
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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Tlr8
toll-like receptor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27385120
NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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Tlr9
toll-like receptor 9
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human) associated with psoriasis;mRNA:increased expession:skin (human)
RGD
PMID:28062211 PMID:27184185
RGD:18337466 , RGD:18337479
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Trem1
triggering receptor expressed on myeloid cells 1
ISO
protein:increased expression:plasma
RGD
PMID:27328755
RGD:126925974
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma
RGD
PMID:16115302
RGD:5686674
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Cd163
CD163 molecule
ISO
associated with human immunodeficiency virus infectious disease, opioid abuse;protein:increased expression:blood plasma (human)
RGD
PMID:31687981
RGD:149735532
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:1670041
RGD:5688335
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
RGD
PMID:20939108
RGD:14700885
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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F2
coagulation factor II, thrombin
disease_progression
ISO
RGD
PMID:21805422
RGD:5147782
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Gpc3
glypican 3
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28801286
RGD:243065135
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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Il10
interleukin 10
ISO
DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human)
RGD
PMID:30109600
RGD:14975142
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il2rb
interleukin 2 receptor subunit beta
ISO
protein:decreased expression:peripheral blood lymphocyte
RGD
PMID:1325198
RGD:42724465
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
G
Smad4
SMAD family member 4
ISO
associated with hepatocellular carcinoma; protein:altered expression:liver
RGD
PMID:22799322
RGD:21066341
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
G
Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:missense mutation:cds:p.R194W, p.R280H (human)
RGD
PMID:19194663
RGD:15014792
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Ifng
interferon gamma
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il18bp
interleukin 18 binding protein
ISO
ClinVar Annotator: match by term: Hepatitis, fulminant viral, susceptibility to
ClinVar
PMID:25741868 PMID:28492532 PMID:31213488
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Il2
interleukin 2
susceptibility
ISO
DNA:polymorphism::-330T>G(human)
RGD
PMID:21162873
RGD:14747036
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
protein:increased phosphorylation:liver, inflammatory cell (human)
RGD
PMID:24731448
RGD:25671417
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17212643
RGD:14696781
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Trem1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:27328755
RGD:126925974
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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