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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:autoimmune hepatitis
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Accession:DOID:2048 term browser 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 Hepatitides;   Autoimmune Chronic Hepatitis;   Autoimmune Hepatitides;   autoimmune chronic active hepatitis;   autoimmune hepatitis with centrilobular necrosis
 primary_id: MESH:D019693
 xref: 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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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: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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      gastrointestinal system disease 6069
        autoimmune disease of gastrointestinal tract 254
          autoimmune hepatitis 40
            autoimmune cholangitis 0
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
                autoimmune hepatitis 40
                  autoimmune cholangitis 0
paths to the root