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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Chronic Hepatitis
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Accession:DOID:9008510 term browser browse the term
Definition:INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors.
Synonyms:exact_synonym: chronic active hepatitis;   chronic persistent hepatitides;   chronic persistent hepatitis;   cryptogenic chronic hepatitis
 primary_id: MESH:D006521
 alt_id: RDO:0005781
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Chronic Hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,075,835...85,080,552 JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:132,528,863...132,545,052
Ensembl chr 7:132,528,895...132,545,052
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25053573 NCBI chr19:10,826,032...10,827,048 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
autoimmune hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:19781375 RGD:41412171 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
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
JBrowse link
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
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr14:17,270,146...17,289,458
Ensembl chr14:17,270,146...17,289,511
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
G F2 coagulation factor II 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Il21 interleukin 21 exacerbates ISO protein:increased expression:blood serum, peripheral blood mononuclear cell (human) RGD PMID:27386263 RGD:127285554 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
Chronic Hepatitis B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression
protein:decreased expression:plasma (human)
mRNA, protein:decreased expression:liver, serum (human)
RGD PMID:21726101 PMID:25115832 PMID:27015844 RGD:5508214, RGD:25671433, RGD:25671432 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 severity ISO RGD PMID:17711627 RGD:14995339 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Cd274 CD274 molecule treatment ISO protein:increased expression:regulatory T cell RGD PMID:26266813 PMID:20460044 RGD:11344683, RGD:41412166 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO protein:increased expression:serum (human) RGD PMID:28465467 RGD:39939037 NCBI chr16:67,430,684...67,442,459
Ensembl chr16:67,430,578...67,442,730
JBrowse link
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 JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
G Il12b interleukin 12B susceptibility ISO DNA:SNP:3'utr: (rs3212227) RGD PMID:25469587 RGD:11074616 NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Il21 interleukin 21 susceptibility
treatment
exacerbates
ISO DNA:SNP:intron: (rs2221903) (human)
associated with non-alcoholic fatty liver disease
DNA:SNPs:introns: (rs2221903, rs907715) (human)
protein:increased expression:blood serum (human)
protein:decreased expression:blood serum (human)
RGD PMID:23354321 PMID:31281514 PMID:26840345 PMID:29879024 PMID:25243706 More... RGD:127285353, RGD:127285551, RGD:127285549, RGD:127285539, RGD:127285378, RGD:127285369, RGD:127285364, RGD:127285361 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype: : RGD PMID:27824315 RGD:14696831 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO protein:decreased expression:blood serum (human) RGD PMID:28871230 RGD:150340590 NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G 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...69,622,570 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Tert telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs10069690,rs2242652(human) RGD PMID:29507683 RGD:14696786 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Chronic Hepatitis C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ang angiogenin ISO RGD PMID:21848603 RGD:6892709 NCBI chr15:24,317,733...24,323,361 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cd209 CD209 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
JBrowse link
G 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
JBrowse link
G Cd274 CD274 molecule ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:18086898 RGD:41410796 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Crp C-reactive protein ISO RGD PMID:22333691 RGD:6482311 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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 chr16:67,430,684...67,442,459
Ensembl chr16:67,430,578...67,442,730
JBrowse link
G Ifna2 interferon alpha 2 treatment ISO associated with end stage renal disease RGD PMID:9187562 PMID:7493300 PMID:19152412 PMID:21272456 PMID:8868074 More... RGD:40886308, RGD:40886318, RGD:40886316, RGD:40886314, RGD:40886313, RGD:40886311, RGD:40886310 NCBI chr 5:103,258,617...103,259,195 JBrowse link
G 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 JBrowse link
G 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 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Il12b interleukin 12B severity ISO DNA:SNP:3' utr:+1188A>C (human) RGD PMID:15871664 RGD:14401721 NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il17d interleukin 17D severity ISO associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human) RGD PMID:27875997 RGD:40903073 NCBI chr15:31,665,795...31,688,840 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Il21 interleukin 21 ameliorates ISO protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human) RGD PMID:24170093 RGD:127285373 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:24895202 RGD:14401602 NCBI chr18:58,758,703...58,758,787 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... RGD:40400920, RGD:40818297, RGD:40818296, RGD:40818295, RGD:40818079, RGD:40813739, RGD:40400738 NCBI chr 1:69,614,744...69,622,570 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
drug-induced hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      endocrine system disease 5824
        liver disease 2467
          hepatitis 271
            Chronic Hepatitis 162
              Chronic Hepatitis B 61
              Chronic Hepatitis C 90
              Chronic Hepatitis D 0
              autoimmune hepatitis + 40
              drug-induced hepatitis 5
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      gastrointestinal system disease 6069
        hepatobiliary disease 2564
          liver disease 2467
            hepatitis 271
              Chronic Hepatitis 162
                Chronic Hepatitis B 61
                Chronic Hepatitis C 90
                Chronic Hepatitis D 0
                autoimmune hepatitis + 40
                drug-induced hepatitis 5
paths to the root