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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 disease of gastrointestinal tract
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Accession:DOID:0060031 term browser browse the term
Definition:An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. (DO)
Synonyms:narrow_synonym: IMMUNODEFICIENCY AND AUTOIMMUNE ENTEROCOLOPATHY


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autoimmune disease of gastrointestinal tract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfat5 nuclear factor of activated T-cells 5 ISO ClinVar Annotator: match by term: Immunodeficiency and Autoimmune Enterocolopathy ClinVar PMID:28492532 NCBI chr19:35,199,737...35,286,675
Ensembl chr19:35,199,016...35,286,675 		JBrowse link
autoimmune gastritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp4b ATPase H+/K+ transporting subunit beta ISO RGD PMID:8393475 PMID:7517707 RGD:14696740, RGD:14696746 NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063 		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...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:19781375 RGD:41412171 NCBI chr 1:227,116,674...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 chr14:17,287,727...17,289,451
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
Ensembl chr 7:113,908,947...113,922,084 		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, 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 		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 2:120,117,105...120,127,012
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 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 		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
Ensembl chr 9:49,419,340...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
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 		JBrowse link
celiac disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:229,865,662...229,973,253
Ensembl chr 1:229,865,662...229,939,162 		JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877 		JBrowse link
G Capn8 calpain 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr13:94,252,218...94,316,146
Ensembl chr13:94,253,054...94,316,146 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056 		JBrowse link
G Cd14 CD14 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: RGD PMID:18728522 RGD:2314152 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3
DNA:SNPs,haplotype: :rs231770,rs231775(human)		 OMIM
CTD
ClinVar
RGD		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... RGD:1300387, RGD:11344917 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 CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:23556408 RGD:7387257 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gbp5 guanylate binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:231,237,748...231,257,071
Ensembl chr 2:231,237,748...231,257,061 		JBrowse link
G Icos inducible T-cell co-stimulator susceptibility ISO DNA:SNP,haplotype: :rs10932037(human) RGD PMID:19020530 RGD:11344917 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703 		JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 6:122,590,461...122,596,996
Ensembl chr 6:122,590,472...122,779,294 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30097691 PMID:26440733 RGD:14974259 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 RGD PMID:27545437 RGD:14975156 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il15 interleukin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23269601 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Il21 interleukin 21 susceptibility ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:blood serum (human)		 CTD
RGD		 PMID:17558408 PMID:22077623 RGD:127285362 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP:cds:p.R381Q(rs11209026)(human) RGD PMID:19175939 PMID:18368064 RGD:8549604, RGD:8549631 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) RGD PMID:18692934 RGD:2307292 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Myo9b myosin IXb susceptibility ISO ClinVar Annotator: match by term: Celiac disease, susceptibility to, 4 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15822038 PMID:16282976 PMID:25741868 PMID:28492532 NCBI chr16:17,945,379...18,030,114
Ensembl chr16:17,945,448...18,030,126 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Piwil2 piwi-like RNA-mediated gene silencing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr15:45,431,402...45,498,034
Ensembl chr15:45,431,703...45,497,702 		JBrowse link
G Pon1 paraoxonase 1 ISO mRNA:decreased expression:duodenum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:decreased expression:duodenum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent
CTD Direct Evidence: marker/mechanism
associated with Down Syndrome;DNA:polymorphism (human)
associated with Thyroiditis, Autoimmune;DNA:polymorphism (human)
DNA:polymorphisms (human)		 CTD
OMIM
RGD		 PMID:16567828 PMID:11426458 PMID:11713456 PMID:18509540 PMID:19494267 More... RGD:2301813, RGD:5147854, RGD:5147808, RGD:5147791, RGD:5147789, RGD:5147625 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 susceptibility ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms
associated with Down Syndrome;DNA:polymorphisms, haplotype:HLA-DQB1*0201 (human)
associated with Thyroiditis, Autoimmune;DNA:polymorphisms, haplotype:HLA-DQB1*02 (human)
DNA:polymorphisms, haplotypes:multiple (human)		 OMIM
CTD
RGD		 PMID:17919990 PMID:29793442 PMID:30013750 PMID:28247576 PMID:11426458 More... RGD:5147625, RGD:14974234, RGD:14928328, RGD:14865008, RGD:5147854, RGD:5147808, RGD:5147791, RGD:5147789 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 ISO DNA:polymorphisms (human) RGD PMID:12404952 RGD:5147803 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096 		JBrowse link
G Soat2 sterol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915 		JBrowse link
G Tff1 trefoil factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597 		JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:duodenum: RGD PMID:15054143 RGD:11062102 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17190764 NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981 		JBrowse link
G Themis thymocyte selection associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 1:16,433,906...16,623,889
Ensembl chr 1:16,432,631...16,664,329 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703 		JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000 		JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639 		JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395 		JBrowse link
G Zmiz1 zinc finger, MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr16:1,027,083...1,232,616
Ensembl chr16:1,027,325...1,232,597 		JBrowse link
North American Indian Childhood Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Utp4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis ClinVar PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 More... NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550 		JBrowse link
primary biliary cholangitis 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 ISO mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 treatment
disease_progression		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)		 CTD
RGD		 PMID:20040336 PMID:30682444 PMID:21209952 PMID:18671305 RGD:153297773, RGD:14694982 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver		 CTD
RGD		 PMID:15542527 PMID:15770136 RGD:14700810 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ace2 angiotensin converting enzyme 2 IEP mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G Agt angiotensinogen IEP protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:20451280 RGD:5148030 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:		 CTD
RGD		 PMID:12126966 PMID:15770052 RGD:14995336 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 IEP protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760 		JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr10:15,717,794...15,780,482
Ensembl chr10:15,717,794...15,780,603 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility
disease_progression
no_association		 ISO autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) (human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
DNA:SNP:CDS:49A>G(human)		 RGD PMID:10782900 PMID:16584111 PMID:21594562 PMID:17482523 RGD:2301998, RGD:14398744, RGD:14398743, RGD:14398725 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 CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893 		JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442 		JBrowse link
G Dag1 dystroglycan 1 IEP mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr13:50,545,324...50,772,922
Ensembl chr13:50,545,836...50,770,601 		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 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15651265 PMID:15651265 RGD:9685530 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gch1 GTP cyclohydrolase 1 treatment IEP RGD PMID:20132096 RGD:329970291 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO
IEP		 mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639, RGD:11041732 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hhip Hedgehog-interacting protein IEP mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmox1 heme oxygenase 1 IEP mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G 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 		JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482 		JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il12a interleukin 12A susceptibility
treatment		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNP: :rs62270414(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)		 CTD
RGD		 PMID:20639880 PMID:19458352 PMID:23433321 PMID:27175695 RGD:25440500, RGD:25440498, RGD:25440489 NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Il12rb1 interleukin 12 receptor subunit beta 1 susceptibility IEP RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769 		JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:20442198 RGD:7829828 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Jak2 Janus kinase 2 treatment IMP RGD PMID:24619965 RGD:10403061 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Krt18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166 		JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052 		JBrowse link
G Lbr lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 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 protein:increased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor IEP RGD PMID:17532087 RGD:9685452 NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mir21 microRNA 21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir223 microRNA 223 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP
ISO		 protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30026087 PMID:21903766 RGD:5509055 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30026087 PMID:20132096 RGD:329970291 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 susceptibility ISO mRNA,protein:decreased expression:liver (human) RGD PMID:29968724 RGD:14928336 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nsa2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:28,443,142...28,449,393
Ensembl chr 2:28,441,269...28,449,388 		JBrowse link
G Nup62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 1:95,298,995...95,314,902
Ensembl chr 1:95,295,526...95,315,174 		JBrowse link
G Pde5a phosphodiesterase 5A IMP RGD PMID:17610866 RGD:2314466 NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA, protein:decreased expression:liver RGD PMID: RGD:6484526 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Ren renin IEP protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : RGD PMID:15713222 RGD:14401562 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
G Slc51a solute carrier family 51 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485 		JBrowse link
G Slc51b SLC51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145 		JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 4:174,877,045...174,950,900
Ensembl chr 4:174,876,593...174,950,873 		JBrowse link
G Slco1c1 solute carrier organic anion transporter family, member 1c1 IEP protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 4:174,466,621...174,513,290
Ensembl chr 4:174,466,631...174,513,289 		JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Spib Spi-B transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 1:95,018,939...95,024,804
Ensembl chr 1:95,018,947...95,024,780 		JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119 		JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association		 ISO DNA:SNPs, haplotypes:multiple
CTD Direct Evidence: marker/mechanism
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
DNA:SNP: intron: (rs7574865) (human)
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)		 CTD
RGD		 PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 PMID:24648611 RGD:25671415, RGD:25671421, RGD:25671416, RGD:25671415 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Primary biliary cholangitis ClinVar PMID:25741868 PMID:28492532 PMID:32439973 NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295 		JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 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 ISO protein:increased expression:serum (human)
mRNA:increased expression:liver		 RGD PMID:9047083 PMID:17158635 RGD:14995307, RGD:38501106 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044 		JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639 		JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:polymorphism: :
DNA:SNP: :		 GAD
RGD		 PMID:15118671 PMID:15683428 PMID:19376604 RGD:1331525, RGD:14402024, RGD:14401750 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 IEP
ISO		 protein:increased expression:liver
protein:increased expression:plasma:		 RGD PMID:26627607 PMID:26615570 RGD:11528851, RGD:11538286 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A ISS OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351 		JBrowse link
primary biliary cholangitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il12rb2 interleukin 12 receptor subunit beta 2 ISO ClinVar Annotator: match by term: IL12RB2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:96,426,396...96,515,251
Ensembl chr 4:96,426,842...96,515,289 		JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More... NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
ulcerative colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO RGD PMID:15505619 RGD:1598568 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Acsm3 acyl-CoA synthetase medium-chain family member 3 ISO mRNA:decreased expression:colonic mucosa RGD PMID:21987487 RGD:7241281 NCBI chr 1:174,133,260...174,159,966
Ensembl chr 1:174,133,288...174,160,184 		JBrowse link
G Adcy7 adenylate cyclase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28067910 NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:16432373 RGD:5686726 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adrb2 adrenoceptor beta 2 IEP protein:decreased expression:large intestine mucosa,spleen RGD PMID:22772914 RGD:7175063 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:35999755 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO protein:increased expression:large intestine epithelium RGD PMID:7679252 RGD:5509621 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO protein:decreased expression:colonic mucosa RGD PMID:22783049 RGD:14367879 NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877 		JBrowse link
G Apln apelin ISO protein:increased expression:intestine RGD PMID:17391779 RGD:1626177 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Apoa4 apolipoprotein A4 severity ISO DNA:missense mutation:cds:p.Q360H (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:35999755 PMID:17206692 RGD:5685660 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Aqp7 aquaporin 7 severity ISO mRNA, protein:decreased expression:colon RGD PMID:15338270 RGD:1626292 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18836448 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471 		JBrowse link
G Brinp3 BMP/retinoic acid inducible neural specific 3 ISO mRNA,protein:decreased expression:intestine RGD PMID:25171508 RGD:14398484 NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770 		JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNPs: : rs2294881,rs9268480,rs2076523(human) RGD PMID:19659809 RGD:9685032 NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341 		JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35999755 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055189 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 treatment IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16306769 PMID:21887805 RGD:7488892 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:colon RGD PMID:10433925 RGD:6483784 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
G Ccny cyclin Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr17:57,385,002...57,512,860
Ensembl chr17:57,384,176...57,522,378 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21077277 RGD:6892920 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16306769 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:intestine, epithelial cell RGD PMID:20133813 RGD:5490590 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Cdh3 cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A disease_progression ISO RGD PMID:15743319 RGD:8662406 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:35999755 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO mRNA:increased expression:intestine: RGD PMID:27051591 RGD:151667910 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain IEP Protein:increased expression:large intestine mucosa RGD PMID:17011522 RGD:1600887 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:17939044 RGD:5688304 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO protein:increased expression:serum (human) RGD PMID:32245981 RGD:401900121 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO mRNA:increased expression:peripheral blood immature plasma cells (human) RGD PMID:21087446 RGD:6480657 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:peripheral blood immature plasma cells (human) RGD PMID:21087446 RGD:6480657 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:28811712 RGD:151665177 NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383 		JBrowse link
G Dap death-associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 2:82,199,206...82,251,771
Ensembl chr 2:82,199,280...82,251,752 		JBrowse link
G Defa5 defensin alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452301 NCBI chr16:70,342,530...70,344,854
Ensembl chr16:70,342,530...70,344,836 		JBrowse link
G Dpep1 dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35999755 NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257 		JBrowse link
G Duox2 dual oxidase 2 ISO mRNA:increased expression:colon (human) RGD PMID:19759286 RGD:40924645 NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671 		JBrowse link
G Ephb2 Eph receptor B2 ameliorates IDA RGD PMID:33722292 RGD:127285641 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059 		JBrowse link
G Esr2 estrogen receptor 2 ISO mRNA:decreased expression:colon RGD PMID:21252046 RGD:5508810 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21593018 RGD:5147754 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 IEP RGD PMID:30122878 RGD:13792562 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 IEP RGD PMID:30122878 RGD:13792562 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility ISO DNA:polymorphism: :p.A519G (human)
DNA:SNP: :rs1801274 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19915573 PMID:20228799 PMID:20848524 PMID:19915573 RGD:5147918, RGD:5147922 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO mRNA:increased expression:colon, lamina propria, myofibroblasts (human) RGD PMID:9358773 RGD:126928145 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929 		JBrowse link
G Gc GC, vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human) RGD PMID:21832969 RGD:5509866 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:19617644 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Gna12 G protein subunit alpha 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr12:13,805,580...13,886,255
Ensembl chr12:13,805,698...13,886,255 		JBrowse link
G Gpr65 G-protein coupled receptor 65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30616622 NCBI chr 6:117,515,786...117,536,514
Ensembl chr 6:117,515,648...117,536,512 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO protein:decreased expression:erythrocyte RGD PMID:20186929 RGD:11352754 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gpx2 glutathione peroxidase 2 disease_progression ISO protein:increased expression:large intestine (human) RGD PMID:18479189 RGD:152998902 NCBI chr 6:95,493,589...95,496,877
Ensembl chr 6:95,493,589...95,496,877 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:17565649 PMID:26604430 PMID:28626742 RGD:5490554, RGD:11538341, RGD:14700999 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 susceptibility ISO DNA:deletion: : RGD PMID:17565649 PMID:26604430 RGD:5490554, RGD:11538341 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:18340362 RGD:5509777 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:35999755 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:colon mucosa, epithelium (human) RGD PMID:22297444 RGD:5688753 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO protein:decreased expression:colonic epithelium,colonic mucosa (human) RGD PMID:28586045 RGD:152985530 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP
ISO		 mRNA:increased expression:substantia nigra (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15553846 PMID:20584104 RGD:4145388 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein:altered expression:colon RGD PMID:18938767 RGD:5686432 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:16088202 RGD:5509966 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18836448 PMID:20228799 PMID:28120341 PMID:26660358 RGD:14975153, RGD:14975255 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 PMID:20228799 PMID:21297633 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Il18rap interleukin 18 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 9:42,768,112...42,800,964
Ensembl chr 9:42,768,220...42,800,959 		JBrowse link
G Il1b interleukin 1 beta IEP
ISO		 protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12133438 PMID:15955209 PMID:20452301 PMID:22119283 PMID:24812904 RGD:10450593 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8119534 RGD:6909136 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il23r interleukin 23 receptor ISO DNA:SNP,Haplotype: :rs1884444(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18438406 PMID:19122664 PMID:20228799 PMID:23093364 RGD:8549574 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il33 interleukin 33 severity
treatment		 ISO mRNA:increased expression:sigmoid colon RGD PMID:25112700 PMID:21037074 PMID:28802904 RGD:39938951, RGD:40813742, RGD:39938966 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Irgm immunity-related GTPase M ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr10:33,233,513...33,241,594
Ensembl chr10:33,233,455...33,241,578 		JBrowse link
G Jak2 Janus kinase 2 ISO DNA:SNP: :rs10758669 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20228799 PMID:21297633 PMID:22269120 RGD:6483020 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:colon RGD PMID:19013462 RGD:5684406 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kif21b kinesin family member 21B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr13:47,576,129...47,626,112
Ensembl chr13:47,576,160...47,626,127 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585 		JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16640825 PMID:35999755 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:feces
miRNA:increased expression:colon		 RGD PMID:30927737 PMID:29668922 PMID:29325325 PMID:29438285 RGD:21079443, RGD:24922213, RGD:24922207, RGD:21403682 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir31 microRNA 31 ISO miRNA:increased expression:colon RGD PMID:29438285 RGD:21403682 NCBI chr 5:103,599,038...103,599,143 JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA RGD PMID:18837084 RGD:7207395 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22119283 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20380826 PMID:22119283 PMID:24055189 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Mst1 macrophage stimulating 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 PMID:20228799 NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G (human) RGD PMID:21947961 RGD:5508217 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:altered expression: : RGD PMID:12870797 RGD:2324685 NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Nkx2-3 NK2 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 PMID:18438406 PMID:20228799 NCBI chr 1:242,478,130...242,481,083
Ensembl chr 1:242,478,130...242,481,083 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452301 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr10:83,590,052...83,596,035
Ensembl chr10:83,590,071...83,598,620 		JBrowse link
G Pon1 paraoxonase 1 ISO mRNA:decreased expression:colon (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:decreased expression:colon (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855 		JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488 		JBrowse link
G Psmg1 proteasome assembly chaperone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr11:35,276,080...35,285,541
Ensembl chr11:35,276,011...35,285,622 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:21818367 RGD:6483532 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IMP RGD PMID:17429720 RGD:2300267 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:17429720 RGD:2300267 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15955209 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Ripk2 receptor-interacting serine-threonine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452301 NCBI chr 5:29,630,806...29,662,804
Ensembl chr 5:29,631,570...29,662,657 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:31038770 RGD:14865009 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25559196 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Sell selectin L ISO DNA:polymorphism: :p.F206L (human) RGD PMID:19212205 RGD:13464267 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456 		JBrowse link
G Selp selectin P ISO protein:increased expression:serum RGD PMID:21526498 RGD:6218993 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:transition, repeat:promoter:-237C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human)		 CTD
RGD		 PMID:16059695 PMID:18340647 PMID:11929588 RGD:5684939, RGD:5684968 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915573 NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772 		JBrowse link
G Sphk1 sphingosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055189 NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO DNA:SNP: :rs744166 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18438405 PMID:20228799 PMID:22269120 RGD:6483020 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Thbd thrombomodulin ISO protein:decreased expression:colon, blood vessel RGD PMID:17557119 RGD:5685011 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tnf tumor necrosis factor treatment ISO
IEP		 protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19617644 PMID:20452301 PMID:22119283 PMID:25204186 PMID:24812904 More... RGD:10450577, RGD:10450593, RGD:14975153 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 severity ISO mRNA,protein:increased expression, decreased expression:colonic mucosa (human) RGD PMID:28842689 RGD:151347619 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282 		JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228 		JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15553846 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma, large intestine mucosa RGD PMID:19013462 RGD:5684406 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vip vasoactive intestinal peptide severity ISO mRNA:decreased expression:colon RGD PMID:22143367 RGD:5685619 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 ISO RGD PMID:17611633 RGD:5685618 NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      gastrointestinal system disease 7050
        autoimmune disease of gastrointestinal tract 271
          autoimmune gastritis 1
          autoimmune hepatitis + 42
          celiac disease + 56
          primary biliary cholangitis + 102
          ulcerative colitis + 123
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Immune & Inflammatory Diseases 5564
        immune system disease 4771
          primary immunodeficiency disease 4144
            autoimmune disease 2319
              autoimmune disease of gastrointestinal tract 271
                autoimmune gastritis 1
                autoimmune hepatitis + 42
                celiac disease + 56
                primary biliary cholangitis + 102
                ulcerative colitis + 123
paths to the root