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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 chr 5:79,995,292...80,115,116
Ensembl chr 5:80,003,587...80,115,096 		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:7517707 PMID:8393475 RGD:14696740 RGD:14696746 NCBI chr22:60,898,801...60,904,223
Ensembl chr22:60,898,833...60,904,223 		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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G ALDOB aldolase, fructose-bisphosphate B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16115720 NCBI chr11:58,150,621...58,166,266
Ensembl chr11:58,150,967...58,176,319 		JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G C1S complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CD274 CD274 molecule ISO RGD PMID:19781375 RGD:41412171 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522 		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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G CYP2D15 cytochrome P450 family 2 subfamily D member 15 ISO protein:increased expression:serum: RGD PMID:3186722 PMID:10435724 RGD:11353781 RGD:7207226 NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphism (human) RGD PMID:17050030 PMID:20007077 RGD:5147584 RGD:5147634 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827 		JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO RGD PMID:20821236 PMID:21711423 RGD:5147750 RGD:5147775 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G FAS Fas cell surface death receptor treatment ISO protein:increased expression:lymphocyte: RGD PMID:26429926 PMID:28551553 RGD:14700710 RGD:14700711 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:28551553 RGD:14700710 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224 		JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism (human)
DNA:polymorphisms: :multiple (human)		 RGD PMID:10573514 PMID:11182227 PMID:15763345 PMID:17050030 RGD:5147634 RGD:5147652 RGD:5147810 RGD:5147856 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO human gene in a mouse model RGD PMID:9195373 RGD:14694814 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL13 interleukin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388 		JBrowse link
G IL18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G IL2 interleukin 2 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:21227906 PMID:29233784 PMID:29323192 RGD:14747037 RGD:14747042 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G IL21 interleukin 21 exacerbates ISO protein:increased expression:blood serum, peripheral blood mononuclear cell (human) RGD PMID:27386263 RGD:127285554 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266 		JBrowse link
G IL22 interleukin 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr10:10,487,367...10,492,238
Ensembl chr10:10,487,262...10,492,371 		JBrowse link
G IL4 interleukin 4 susceptibility
treatment		 ISO DNA:SNPs:promoter:-590C>T,-33T>C (human)
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21227906 PMID:26735262 PMID:30034292 RGD:14696677 RGD:14696683 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534 		JBrowse link
G IL5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G IL9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr11:23,808,919...23,814,085
Ensembl chr11:23,811,117...23,814,079 		JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G MIR155 microRNA mir-155 treatment ISO RGD PMID:29420849 PMID:30290123 RGD:21081535 RGD:21409750 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MIR223 microRNA mir-223 treatment ISO RGD PMID:29145157 PMID:31826604 RGD:21408546 RGD:21408563 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233 		JBrowse link
G PDCD1 programmed cell death 1 ISO RGD PMID:19781375 PMID:23869988 RGD:40818236 RGD:41412171 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO RGD PMID:19781375 RGD:41412171 NCBI chr 1:93,631,676...93,698,560
Ensembl chr 1:93,631,979...93,689,266 		JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO RGD PMID:20208391 RGD:9999172 NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human) RGD PMID:23990947 PMID:28977835 RGD:25671418 RGD:25671419 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:polymorphism: : RGD PMID:15683428 RGD:14402024 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO protein:increased expression:blood serum (human) RGD PMID:20534899 RGD:151361169 NCBI chr 5:78,450,963...78,635,615
Ensembl chr 5:78,455,005...78,610,033 		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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135 		JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992 		JBrowse link
G ASAH2 N-acylsphingosine amidohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr26:37,136,601...37,228,215
Ensembl chr26:37,136,897...37,218,783 		JBrowse link
G BACH2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr12:49,101,621...49,375,415
Ensembl chr12:49,106,523...49,460,286 		JBrowse link
G CAPN8 calpain 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:40,408,408...40,451,843
Ensembl chr 7:40,408,141...40,452,068 		JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255 		JBrowse link
G CD14 CD14 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: RGD PMID:18728522 RGD:2314152 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3 ClinVar
OMIM		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979 		JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr32:631,084...636,997
Ensembl chr32:631,478...632,868
Ensembl chr32:631,478...632,868 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO DNA:polymorphism (human) OMIM
RGD		 PMID:17919990 RGD:5147625 NCBI chr12:2,305,307...2,307,711 JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:6,059,023...6,189,516
Ensembl chr 5:6,058,935...6,186,232 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:23556408 RGD:7387257 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G GBP5 guanylate binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 6:59,273,699...59,292,563
Ensembl chr 6:59,273,592...59,393,229 		JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO DNA:polymorphisms (human) RGD PMID:12404952 RGD:5147803 NCBI chr12:2,151,409...2,164,564 JBrowse link
G ICOS inducible T cell costimulator susceptibility ISO DNA:SNP,haplotype: :rs10932037(human) RGD PMID:19020530 RGD:11344917 NCBI chr37:12,663,839...12,735,266
Ensembl chr37:12,670,999...12,733,458 		JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr31:38,084,861...38,094,743 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:26440733 PMID:30097691 RGD:14974259 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IL10 interleukin 10 ISO RGD PMID:27545437 RGD:14975156 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL15 interleukin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23269601 NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762 		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 chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266 		JBrowse link
G IL23R interleukin 23 receptor susceptibility ISO DNA:SNP:cds:p.R381Q(rs11209026)(human) RGD PMID:18368064 PMID:19175939 RGD:8549604 RGD:8549631 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474 		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 chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038 		JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr38:21,054,870...21,060,948 JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr15:52,399,773...52,409,590
Ensembl chr15:52,399,544...52,406,176 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309 		JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222 		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 OMIM
ClinVar		 PMID:15822038 PMID:16282976 PMID:25741868 PMID:28492532 NCBI chr20:45,512,286...45,582,619
Ensembl chr20:45,512,276...45,582,619 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198 		JBrowse link
G PIWIL2 piwi like RNA-mediated gene silencing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr25:34,911,120...34,987,287
Ensembl chr25:34,912,358...34,987,339 		JBrowse link
G PON1 paraoxonase 1 ISO mRNA:decreased expression:duodenum RGD PMID:17664137 RGD:5509924 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G PON3 paraoxonase 3 ISO mRNA:decreased expression:duodenum RGD PMID:17664137 RGD:5509924 NCBI chr14:20,615,180...20,642,807
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752
G S100A9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:43,566,993...43,570,074 JBrowse link
G SLC6A14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr  X:88,939,176...88,965,093
Ensembl chr  X:88,938,727...88,965,101 		JBrowse link
G SOAT2 sterol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr27:2,053,063...2,062,773
Ensembl chr27:2,053,067...2,062,329 		JBrowse link
G TFF1 trefoil factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665 		JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:increased expression:duodenum: RGD PMID:15054143 RGD:11062102 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242 		JBrowse link
G TGM2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17190764 NCBI chr24:26,631,339...26,662,723
Ensembl chr24:26,628,009...26,663,840 		JBrowse link
G THEMIS thymocyte selection associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 1:66,363,172...66,540,272
Ensembl chr 1:66,363,125...66,540,327 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512 		JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 5:61,548,972...61,562,019
Ensembl chr 5:61,551,405...61,560,667 		JBrowse link
G UBD ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr35:26,426,919...26,436,189 JBrowse link
G UPB1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567 		JBrowse link
G VNN1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:25,678,039...25,704,579
Ensembl chr 1:25,678,042...25,696,807 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 4:28,807,368...29,035,946
Ensembl chr 4:28,854,908...29,045,986 		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 chr 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981 		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 chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496 		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:18671305 PMID:20040336 PMID:21209952 PMID:30682444 RGD:14694982 RGD:153297773 NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver		 CTD
RGD		 PMID:15542527 PMID:15770136 RGD:14700810 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674 		JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:11,798,839...11,839,591
Ensembl chr  X:11,798,839...11,900,594 		JBrowse link
G AGT angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089 		JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		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 chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:15,392,841...15,396,745
Ensembl chr 5:15,389,243...15,396,750 		JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380 		JBrowse link
G CDH5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 5:82,830,505...82,863,931
Ensembl chr 5:82,830,939...82,863,882 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CENPB centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr24:17,569,440...17,572,311
Ensembl chr24:17,569,663...17,572,127 		JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 6:31,560,940...31,757,100
Ensembl chr 6:31,562,834...31,757,678 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221 		JBrowse link
G CPEB4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 4:38,604,065...38,665,200
Ensembl chr 4:38,607,948...38,664,821 		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)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNP:CDS:49A>G(human)		 RGD PMID:10782900 PMID:16584111 PMID:17482523 PMID:21594562 RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 5:14,921,447...14,932,937
Ensembl chr 5:14,923,089...14,932,762 		JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 9:4,191,114...4,201,438
Ensembl chr 9:4,184,959...4,200,164 		JBrowse link
G DAG1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G DENND1B DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 7:5,008,249...5,267,392
Ensembl chr 7:4,999,430...5,262,630 		JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:15651265 RGD:9685530 NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:20132096 RGD:329970291 NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156 		JBrowse link
G HAMP hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639 RGD:11041732 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619 		JBrowse link
G HHIP hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr15:43,432,464...43,525,973
Ensembl chr15:43,431,650...43,520,861 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692 		JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G ICAM3 intercellular adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr20:50,777,422...50,783,853
Ensembl chr20:50,777,467...50,783,787 		JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr16:1,037,169...1,040,996
Ensembl chr16:1,037,162...1,167,094 		JBrowse link
G IL10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL12A interleukin 12A susceptibility
treatment		 ISO DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs62270414(human)		 RGD
CTD		 PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695 RGD:25440489 RGD:25440498 RGD:25440500 NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550 		JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 susceptibility ISO RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr20:44,885,410...44,908,139
Ensembl chr20:44,885,337...44,904,538 		JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534 		JBrowse link
G IL7R interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496 		JBrowse link
G KRT18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr27:2,189,269...2,193,368
Ensembl chr27:2,189,269...2,193,368 		JBrowse link
G KRT7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr27:2,812,709...2,827,451 JBrowse link
G LBR lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606 		JBrowse link
G LEP leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G LEPR leptin receptor ISO protein:increased expression:blood serum RGD PMID:16093869 RGD:10411894 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819 		JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969 		JBrowse link
G MAP3K14 mitogen-activated protein kinase kinase kinase 14 ISO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr 9:18,255,416...18,302,405
Ensembl chr 9:18,280,198...18,302,401 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO RGD PMID:17532087 RGD:9685452 NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MIR223 microRNA mir-223 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911 		JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr18:45,416,347...45,438,226 JBrowse link
G MYBPC2 myosin binding protein C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 1:106,294,360...106,301,700
Ensembl chr 1:106,266,817...106,301,686 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21903766 PMID:30026087 RGD:5509055 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20132096 PMID:30026087 RGD:329970291 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		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 chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755 		JBrowse link
G NSA2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:57,304,160...57,311,836 JBrowse link
G NUP62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 1:106,636,282...106,661,250 JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:17610866 RGD:2314466 NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G REN renin ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr 9:34,387,084...34,590,603
Ensembl chr 9:34,387,091...34,425,292 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr16:15,111,078...15,126,618
Ensembl chr16:15,111,116...15,126,617 		JBrowse link
G SLC51A solute carrier family 51 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr33:29,336,000...29,361,782
Ensembl chr33:29,336,552...29,361,738 		JBrowse link
G SLC51B SLC51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr30:29,425,489...29,436,204
Ensembl chr30:29,425,860...29,436,073 		JBrowse link
G SLCO1C1 solute carrier organic anion transporter family member 1C1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr27:26,497,639...26,553,790
Ensembl chr27:26,498,292...26,553,314 		JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr30:7,976,094...7,989,019
Ensembl chr30:7,975,235...7,988,339 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:114,699,050...114,727,802
Ensembl chr 1:114,699,241...114,727,763 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes:multiple
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
DNA:SNP: intron: (rs7574865) (human)
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)		 CTD
RGD		 PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 RGD:25671415 RGD:25671416 RGD:25671421 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894 		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 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654 		JBrowse link
G TLR9 toll like receptor 9 ISO protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114 		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 chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TYK2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr20:50,747,145...50,770,008
Ensembl chr20:50,748,329...50,769,216 		JBrowse link
G UBD ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr35:26,426,919...26,436,189 JBrowse link
G UTP4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:polymorphism: :
DNA:SNP: :		 RGD PMID:15683428 PMID:19376604 RGD:14401750 RGD:14402024 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:liver
protein:increased expression:plasma:		 RGD PMID:26615570 PMID:26627607 RGD:11528851 RGD:11538286 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A ISO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr15:4,972,369...4,984,218
Ensembl chr15:4,972,956...4,980,371 		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 5:43,197,034...43,269,571
Ensembl chr 5:43,197,034...43,257,594 		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 OMIM
ClinVar		 PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More... NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606 		JBrowse link
ulcerative colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility ISO RGD PMID:15505619 RGD:1598568 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		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 6:24,558,010...24,594,326
Ensembl chr 6:24,558,142...24,582,728 		JBrowse link
G ADCY7 adenylate cyclase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28067910 NCBI chr 2:65,003,891...65,034,812
Ensembl chr 2:65,006,038...65,034,777 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:16432373 RGD:5686726 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO protein:decreased expression:large intestine mucosa,spleen RGD PMID:22772914 RGD:7175063 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298 		JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:35999755 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO protein:increased expression:large intestine epithelium RGD PMID:7679252 RGD:5509621 NCBI chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119 		JBrowse link
G ALPI alkaline phosphatase, intestinal ISO protein:decreased expression:colonic mucosa RGD PMID:22783049 RGD:14367879 NCBI chr25:44,107,418...44,110,947 JBrowse link
G APLN apelin ISO protein:increased expression:intestine RGD PMID:17391779 RGD:1626177 NCBI chr  X:100,863,360...100,873,105 JBrowse link
G APOA4 apolipoprotein A4 severity ISO DNA:missense mutation:cds:p.Q360H (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17206692 PMID:35999755 RGD:5685660 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837 		JBrowse link
G AQP7 aquaporin 7 severity ISO mRNA, protein:decreased expression:colon RGD PMID:15338270 RGD:1626292 NCBI chr11:50,474,007...50,488,191 JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18836448 NCBI chr37:24,914,389...24,935,998
Ensembl chr37:24,914,642...24,935,824 		JBrowse link
G BRINP3 BMP/retinoic acid inducible neural specific 3 ISO mRNA,protein:decreased expression:intestine RGD PMID:25171508 RGD:14398484 NCBI chr38:8,181,227...8,558,518
Ensembl chr38:8,205,916...8,558,482 		JBrowse link
G BTNL2 butyrophilin like 2 susceptibility ISO DNA:SNPs: : rs2294881,rs9268480,rs2076523(human) RGD PMID:19659809 RGD:9685032 NCBI chr12:2,085,589...2,106,787
Ensembl chr12:2,086,324...2,107,124 		JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35999755 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591 		JBrowse link
G CASP3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055189 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505 		JBrowse link
G CCL20 C-C motif chemokine ligand 20 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16306769 PMID:21887805 RGD:7488892 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709 		JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO protein:increased expression:colon RGD PMID:10433925 RGD:6483784 NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483 		JBrowse link
G CCNY cyclin Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr 2:1,387,962...1,720,497
Ensembl chr 2:1,390,082...1,720,357 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:21077277 RGD:6892920 NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16306769 NCBI chr 1:54,932,798...54,960,646
Ensembl chr 1:54,932,690...54,959,740 		JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:intestine, epithelial cell RGD PMID:20133813 RGD:5490590 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDH3 cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr 5:80,864,859...80,912,136
Ensembl chr 5:80,863,661...80,913,019 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:15743319 RGD:8662406 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CFB complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:35999755 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO mRNA:increased expression:intestine: RGD PMID:27051591 RGD:151667910 NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO Protein:increased expression:large intestine mucosa RGD PMID:17011522 RGD:1600887 NCBI chr31:38,915,872...38,957,484 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:17939044 RGD:5688304 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO protein:increased expression:serum (human) RGD PMID:32245981 RGD:401900121 NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12133438 PMID:15955209 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO mRNA:increased expression:peripheral blood immature plasma cells RGD PMID:21087446 RGD:6480657 NCBI chr  X:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:peripheral blood immature plasma cells RGD PMID:21087446 RGD:6480657 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:28811712 RGD:151665177 NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216 		JBrowse link
G DAP death associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr34:3,616,960...3,682,424
Ensembl chr34:3,617,000...3,680,793 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO RGD PMID:31038770 RGD:14865009 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DPEP1 dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35999755 NCBI chr 5:63,909,034...63,923,309
Ensembl chr 5:63,909,042...63,923,492 		JBrowse link
G DUOX2 dual oxidase 2 ISO mRNA:increased expression:colon (human) RGD PMID:19759286 RGD:40924645 NCBI chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716 		JBrowse link
G ECM1 extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr17:59,696,125...59,701,990
Ensembl chr17:59,696,477...59,701,744 		JBrowse link
G EPHB2 EPH receptor B2 ameliorates ISO RGD PMID:33722292 RGD:127285641 NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786 		JBrowse link
G ESR2 estrogen receptor 2 ISO mRNA:decreased expression:colon RGD PMID:21252046 RGD:5508810 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21593018 RGD:5147754 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G FAS Fas cell surface death receptor treatment ISO RGD PMID:30122878 RGD:13792562 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:30122878 RGD:13792562 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO mRNA:increased expression:colon, lamina propria, myofibroblasts (human) RGD PMID:9358773 RGD:126928145 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521 		JBrowse link
G GC GC vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human) RGD PMID:21832969 RGD:5509866 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:19617644 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510 		JBrowse link
G GNA12 G protein subunit alpha 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 6:14,375,144...14,476,018
Ensembl chr 6:14,413,576...14,473,764 		JBrowse link
G GPR65 G protein-coupled receptor 65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30616622 NCBI chr 8:59,334,544...59,351,039
Ensembl chr 8:59,349,839...59,350,864 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO protein:decreased expression:erythrocyte RGD PMID:20186929 RGD:11352754 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G GPX2 glutathione peroxidase 2 disease_progression ISO protein:increased expression:large intestine (human) RGD PMID:18479189 RGD:152998902 NCBI chr 8:39,322,040...39,325,833
Ensembl chr 8:39,322,034...39,325,817 		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 3:31,723,113...31,966,061
Ensembl chr 3:31,723,500...31,966,199 		JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25559196 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916 		JBrowse link
G HNMT histamine N-methyltransferase ISO RGD PMID:18340362 RGD:5509777 NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218 		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 chr11:21,290,603...21,363,701
Ensembl chr11:21,290,621...21,505,122 		JBrowse link
G HTRA1 HtrA serine peptidase 1 ISO protein:decreased expression:colonic epithelium,colonic mucosa (human) RGD PMID:28586045 RGD:152985530 NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:substantia nigra (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15553846 PMID:20584104 RGD:4145388 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr31:38,084,861...38,094,743 JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:altered expression:colon RGD PMID:18938767 RGD:5686432 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387 		JBrowse link
G IGF2 insulin like growth factor 2 disease_progression ISO RGD PMID:16088202 RGD:5509966 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr18:1,661,851...1,750,987
Ensembl chr18:1,661,690...1,770,768 		JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18836448 PMID:20228799 PMID:26660358 PMID:28120341 RGD:14975153 RGD:14975255 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 PMID:20228799 PMID:21297633 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228 		JBrowse link
G IL17REL interleukin 17 receptor E like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228798 NCBI chr10:17,238,418...17,242,686
Ensembl chr10:17,216,084...17,242,226 		JBrowse link
G IL18RAP interleukin 18 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr10:40,578,503...40,605,800
Ensembl chr10:40,581,096...40,605,766 		JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12133438 PMID:15955209 PMID:20452301 PMID:22119283 PMID:24812904 RGD:10450593 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8119534 RGD:6909136 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G IL23R interleukin 23 receptor ISO DNA:SNP,Haplotype: :rs1884444(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18438406 PMID:19122664 PMID:20228799 PMID:23093364 RGD:8549574 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474 		JBrowse link
G IL33 interleukin 33 treatment
severity		 ISO mRNA:increased expression:sigmoid colon RGD PMID:21037074 PMID:25112700 PMID:28802904 RGD:39938951 RGD:39938966 RGD:40813742 NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721 		JBrowse link
G IL7R interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300 		JBrowse link
G IRF5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795 		JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs10758669 (human)		 CTD
RGD		 PMID:20228799 PMID:21297633 PMID:22269120 RGD:6483020 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:colon RGD PMID:19013462 RGD:5684406 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G KIF21B kinesin family member 21B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 7:2,185,040...2,231,046
Ensembl chr 7:2,184,733...2,231,058 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308 		JBrowse link
G LOC481473 immunity-related GTPase family M protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr11:793,416...795,373
Ensembl chr11:793,424...794,617 		JBrowse link
G LSP1 lymphocyte specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr18:46,087,886...46,127,307
Ensembl chr18:46,087,922...46,127,263 		JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16640825 PMID:35999755 NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202 		JBrowse link
G MASP2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797 		JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:decreased expression:feces
miRNA:increased expression:colon		 RGD PMID:29325325 PMID:29438285 PMID:29668922 PMID:30927737 RGD:21079443 RGD:21403682 RGD:24922207 RGD:24922213 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MIR31 microRNA mir-31 ISO miRNA:increased expression:colon RGD PMID:29438285 RGD:21403682 NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:18837084 RGD:7207395 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22119283 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20380826 PMID:22119283 PMID:24055189 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820 		JBrowse link
G MST1 macrophage stimulating 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 PMID:20228799 NCBI chr20:39,582,237...39,586,958
Ensembl chr20:39,582,282...39,586,908 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G (human) RGD PMID:21947961 RGD:5508217 NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:altered expression: : RGD PMID:12870797 RGD:2324685 NCBI chr18:45,416,347...45,438,226 JBrowse link
G NKX2-3 NK2 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 PMID:18438406 PMID:20228799 NCBI chr28:12,466,319...12,469,467
Ensembl chr28:12,466,368...12,469,473 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452301 NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232 		JBrowse link
G ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 9:22,594,425...22,601,108
Ensembl chr 9:22,594,480...22,599,999 		JBrowse link
G PON1 paraoxonase 1 ISO mRNA:decreased expression:colon RGD PMID:17664137 RGD:5509924 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G PON3 paraoxonase 3 ISO mRNA:decreased expression:colon RGD PMID:17664137 RGD:5509924 NCBI chr14:20,615,180...20,642,807
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G PRDM1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr12:63,454,242...63,495,278
Ensembl chr12:63,470,974...63,495,579 		JBrowse link
G PSMG1 proteasome assembly chaperone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr31:33,914,640...33,925,925
Ensembl chr31:33,914,668...33,925,883 		JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO RGD PMID:21818367 RGD:6483532 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO RGD PMID:17429720 RGD:2300267 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:17429720 RGD:2300267 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr 7:78,160,564...78,252,382
Ensembl chr 7:78,160,589...78,252,719 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15955209 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G RIPK2 receptor interacting serine/threonine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452301 NCBI chr29:35,283,209...35,311,608
Ensembl chr29:35,282,072...35,311,333 		JBrowse link
G SELL selectin L ISO DNA:polymorphism: :p.F206L (human) RGD PMID:19212205 RGD:13464267 NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008 		JBrowse link
G SELP selectin P ISO protein:increased expression:serum RGD PMID:21526498 RGD:6218993 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human)
DNA:transition, repeat:promoter:-237C>T (human)		 CTD
RGD		 PMID:11929588 PMID:16059695 PMID:18340647 RGD:5684939 RGD:5684968 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282 		JBrowse link
G SLC26A3 solute carrier family 26 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915573 NCBI chr18:12,817,177...12,843,502
Ensembl chr18:12,808,806...12,843,076 		JBrowse link
G SPHK1 sphingosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055189 NCBI chr 9:4,311,698...4,314,773
Ensembl chr 9:4,311,683...4,314,483 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs744166 (human)		 CTD
RGD		 PMID:18438405 PMID:20228799 PMID:22269120 RGD:6483020 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G THBD thrombomodulin ISO protein:decreased expression:colon, blood vessel RGD PMID:17557119 RGD:5685011 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
G TNF tumor necrosis factor treatment ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19617644 PMID:20452301 PMID:22119283 PMID:24812904 PMID:25204186 More... RGD:10450577 RGD:10450593 RGD:14975153 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		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 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001 		JBrowse link
G TNFSF15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr11:68,887,858...68,909,406
Ensembl chr11:68,893,084...68,909,602 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15553846 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:colon, plasma RGD PMID:19013462 RGD:5684406 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G VIP vasoactive intestinal peptide severity ISO mRNA:decreased expression:colon RGD PMID:22143367 RGD:5685619 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700 		JBrowse link
G VIPR1 vasoactive intestinal peptide receptor 1 ISO RGD PMID:17611633 RGD:5685618 NCBI chr23:11,635,809...11,666,926
Ensembl chr23:11,635,394...11,666,936 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      gastrointestinal system disease 6498
        autoimmune disease of gastrointestinal tract 258
          autoimmune gastritis 1
          autoimmune hepatitis + 38
          celiac disease + 51
          primary biliary cholangitis + 101
          ulcerative colitis + 118
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      Immune & Inflammatory Diseases 5006
        immune system disease 4334
          primary immunodeficiency disease 3733
            autoimmune disease 1992
              autoimmune disease of gastrointestinal tract 258
                autoimmune gastritis 1
                autoimmune hepatitis + 38
                celiac disease + 51
                primary biliary cholangitis + 101
                ulcerative colitis + 118
paths to the root