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: autoimmune hepatitis
Accession: DOID:2048
browse the term
Definition: An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. (DO)
Synonyms: exact_synonym: Autoimmune Chronic Hepatitis; autoimmune chronic active hepatitis; autoimmune chronic hepatitides; autoimmune hepatitides; autoimmune hepatitis with centrilobular necrosis
primary_id: MESH:D019693
xref: EFO:0005676 ; GARD:5871 ; ICD10CM:K75.4 ; ICD9CM:571.42 ; NCI:C27029 ; NCI:C27778
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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Ccl5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cd274
CD274 molecule
ISO
RGD
PMID:19781375
RGD:41412171
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNPs:exons:49A>G (rs231775), CT60 C > T(rs3087243)(human)
RGD
PMID:30320190
RGD:14398726
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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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
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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
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Cyp2d3
cytochrome P450, family 2, subfamily d, polypeptide 3
ISO
RGD
PMID:3186722
RGD:7207226
NCBI chr 7:113,917,711...113,922,068
Ensembl chr 7:113,908,947...113,922,084
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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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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
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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
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Fas
Fas cell surface death receptor
treatment
ISO
protein:increased expression:lymphocyte:
RGD
PMID:28551553 PMID:26429926
RGD:14700710 , RGD:14700711
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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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
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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
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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
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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
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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
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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
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Il2
interleukin 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21227906 PMID:29323192 PMID:29233784
RGD:14747037 , RGD:14747042
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
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
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Il22
interleukin 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
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Il4
interleukin 4
susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs:promoter:-590C>T,-33T>C (human) protein:increased expression:serum:
CTD RGD
PMID:21227906 PMID:26735262 PMID:30034292 PMID:30034292
RGD:14696677 , RGD:14696683 , RGD:14696683
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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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
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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
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Il9
interleukin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21227906
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
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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
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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
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Mir223
microRNA 223
treatment
ISO
RGD
PMID:31826604 PMID:29145157
RGD:21408546 , RGD:21408563
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Pdcd1
programmed cell death 1
ISO
RGD
PMID:23869988 PMID:19781375
RGD:40818236 , RGD:41412171
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pdcd1lg2
programmed cell death 1 ligand 2
ISO
RGD
PMID:19781375
RGD:41412171
NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938
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Pdia3
protein disulfide isomerase family A, member 3
IDA ISO
RGD
PMID:20208391 PMID:20208391
RGD:9999172 , RGD:9999172
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism (human)
RGD
PMID:20007077 PMID:17050030
RGD:5147584 , RGD:5147634
NCBI chr20:4,596,558...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:polymorphisms (human) DNA:polymorphism (human) DNA:polymorphisms: :multiple (human)
RGD
PMID:17050030 PMID:15763345 PMID:11182227 PMID:10573514
RGD:5147634 , RGD:5147652 , RGD:5147810 , RGD:5147856
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
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human)
RGD
PMID:28977835
RGD:25671419
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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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
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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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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
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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
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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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