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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:Crohn's disease
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Accession:DOID:8778 term browser browse the term
Definition:An intestinal disease that involves inflammation located_in intestine. (DO)
Synonyms:exact_synonym: Crohn disease;   Crohn's disease of colon;   Crohn's disease of large bowel;   Crohn's enteritis;   Crohns disease;   granulomatous colitis;   granulomatous enteritis;   inflammatory bowel disease 1;   regional enteritis;   regional ileitides;   regional ileitis;   terminal ileitis
 narrow_synonym: oral Crohn's disease
 related_synonym: CROHN DISEASE, ASSOCIATION WITH;   INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO
 primary_id: MESH:D003424
 alt_id: OMIM:266600
 xref: EFO:0000384;   EFO:0005625;   GARD:10232;   NCI:C2965
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Crohn's disease 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 ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16432373 PMID:21829567 RGD:5686726 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G AGT angiotensinogen ISO ClinVar Annotator: match by term: Crohn disease, association with ClinVar PMID:9120024 PMID:9894356 PMID:12743009 PMID:13937884 PMID:15077204 More... NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		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 protein:decreased expression:blood plasma (human) RGD PMID:17206692 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 ATG16L1 autophagy related 16 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 PMID:18438406 NCBI chr25:44,761,034...44,800,033
Ensembl chr25:44,761,185...44,798,672 		JBrowse link
G ATG4C autophagy related 4C cysteine peptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 5:47,273,387...47,359,452
Ensembl chr 5:47,188,816...47,359,402 		JBrowse link
G BACH2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr12:49,101,621...49,375,415
Ensembl chr12:49,106,523...49,460,286 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO mRNA:decreased expression:bone
protein:undercarboxylated:serum		 RGD PMID:21482072 PMID:22535626 RGD:6483321 RGD:6483546 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791 		JBrowse link
G BPI bactericidal permeability increasing protein ISO RGD PMID:15758620 RGD:1580079 NCBI chr24:26,772,410...26,800,763
Ensembl chr24:26,767,746...26,800,762 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 9:39,008,187...39,009,932 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 CCR7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 9:22,077,976...22,092,818
Ensembl chr 9:22,068,775...22,090,656 		JBrowse link
G CD40 CD40 molecule susceptibility ISO protein:increased expression:intestine, epithelial cell
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)		 RGD PMID:20133813 PMID:20634952 RGD:5490590 RGD:5490971 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO mRNA:increased expression:colon: 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 CIBAR2 CBY1 interacting BAR domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr 5:67,465,646...67,477,709
Ensembl chr 5:67,465,800...67,476,672 		JBrowse link
G CLDN1 claudin 1 ISO RGD PMID:21748286 RGD:11341809 NCBI chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033 		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 CRP C-reactive protein severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum 		CTD
RGD		 PMID:11339241 PMID:22421709 RGD:6482309 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166 		JBrowse link
G DENND1B DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 7:5,008,249...5,267,392
Ensembl chr 7:4,999,430...5,262,630 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO RGD PMID:29358886 RGD:14974239 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902 		JBrowse link
G DOK2 docking protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr25:35,328,767...35,338,712
Ensembl chr25:35,334,176...35,339,175 		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 EFS embryonal Fyn-associated substrate ISO MouseDO NCBI chr 8:3,600,597...3,612,563
Ensembl chr 8:3,600,589...3,613,947 		JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 3:12,780,084...12,819,795
Ensembl chr 3:12,781,849...12,817,025 		JBrowse link
G ESR2 estrogen receptor 2 disease_progression 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 F13A1 coagulation factor XIII A chain ISO associated with Fistula;protein:decreased activity:plasma: RGD PMID:7611208 RGD:10450739 NCBI chr35:6,186,750...6,347,522
Ensembl chr35:6,187,235...6,349,773 		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 FGA fibrinogen alpha chain ISO RGD PMID:19683480 RGD:5688758 NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO mRNA:increased expression:colon, ileum, 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 FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123 		JBrowse link
G FPR formyl peptide receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21659618 NCBI chr 1:105,343,096...105,353,563
Ensembl chr 1:105,344,463...105,372,070 		JBrowse link
G FUT2 fucosyltransferase 2 (H blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 1:107,616,477...107,626,968 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 GPBAR1 G protein-coupled bile acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23566200 NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421 		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 HFE homeostatic iron regulator treatment ISO DNA:SNP: :rs2071303 (human) RGD PMID:27115882 RGD:14701051 NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413 		JBrowse link
G HGFAC HGF activator ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 3:60,906,839...60,916,879
Ensembl chr 3:60,906,844...60,915,280 		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 ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:15638228 RGD:1625756 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:21829567 PMID:28070144 RGD:14974261 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IL10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11113068 PMID:21102463 PMID:29899181 RGD:11049181 RGD:14975133 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 5:15,675,775...15,688,935
Ensembl chr 5:15,677,547...15,682,163 		JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228 		JBrowse link
G IL21R interleukin 21 receptor ISO DNA:altered methylation: : RGD PMID:22021194 RGD:6482789 NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931 		JBrowse link
G IL23R interleukin 23 receptor susceptibility ISO DNA:SNPs:multiple:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17068223 PMID:17435756 PMID:18438406 RGD:8549568 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643 		JBrowse link
G IL6 interleukin 6 ISO OMIM NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G JAK2 Janus kinase 2 ISO DNA:SNP: :rs10758669 (human) RGD 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 LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G LOC474850 heat shock 70 kDa protein 1-like ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:25741868 PMID:28126021 NCBI chr12:1,281,164...1,285,010
Ensembl chr12:1,281,472...1,285,440 		JBrowse link
G LOC476151 formin-like protein 2 ISO ClinVar Annotator: match by term: Crohn disease ClinVar NCBI chr19:53,582,159...53,645,901
Ensembl chr19:53,386,346...53,644,600 		JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III treatment ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14987319 RGD:1304543 NCBI chr38:21,054,870...21,060,948 JBrowse link
G LOC481473 immunity-related GTPase family M protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261 PMID:18438406 PMID:19165925 PMID:21278745 NCBI chr11:793,416...795,373
Ensembl chr11:793,424...794,617 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO DNA:point mutation: :p.T2397M (rs3761863) (human) RGD PMID:21983832 RGD:5508401 NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870 		JBrowse link
G MADCAM1 mucosal vascular addressin cell adhesion molecule 1 ISO RGD PMID:11703369 RGD:2311550 NCBI chr20:57,978,189...57,981,966
Ensembl chr20:57,978,185...57,981,966 		JBrowse link
G MBL1 mannose binding lectin 1 susceptibility ISO DNA:polymorphisms:cds: RGD PMID:21702710 RGD:12910842 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:decreased expression:feces RGD PMID:29325325 PMID:29668922 PMID:30927737 RGD:21079443 RGD:24922207 RGD:24922213 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:leukocyte RGD PMID:25144570 RGD:41404530 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MKI67 marker of proliferation Ki-67 ISO RGD PMID:21364546 RGD:6483536 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486 		JBrowse link
G MST1 macrophage stimulating 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr20:39,582,237...39,586,958
Ensembl chr20:39,582,282...39,586,908 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28002332 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr10:27,597,296...27,672,199
Ensembl chr10:27,597,486...27,615,261 		JBrowse link
G NKX2-3 NK2 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261 PMID:18438405 PMID:18438406 NCBI chr28:12,466,319...12,469,467
Ensembl chr28:12,466,368...12,469,473 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19098911 NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility
no_association		 ISO DNA:frameshift mutation, missense mutations
DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human)
ClinVar Annotator: match by term: Crohn disease | ClinVar Annotator: match by term: Enteritis, Granulomatous | ClinVar Annotator: match by term: Inflammatory bowel disease 1		 OMIM
RGD
ClinVar		 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11528384 PMID:11875755 More... RGD:1600778 RGD:5508730 NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116 		JBrowse link
G OCLN occludin ISO RGD PMID:21748286 RGD:11341809 NCBI chr 2:54,500,299...54,545,430
Ensembl chr 2:54,500,299...54,545,430 		JBrowse link
G PBRM1 polybromo 1 ISO mRNA:decreased expression:colon RGD PMID:28940253 RGD:150340627 NCBI chr20:37,110,437...37,231,676
Ensembl chr20:37,110,766...37,229,203 		JBrowse link
G PDLIM5 PDZ and LIM domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr32:17,294,023...17,505,212
Ensembl chr32:17,294,073...17,502,409 		JBrowse link
G PGF placental growth factor ISO protein:increased expression:serum RGD PMID:17980128 RGD:6483592 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170 		JBrowse link
G PHOX2B paired like homeobox 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854 		JBrowse link
G PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing ISO MouseDO NCBI chr37:16,537,095...16,620,427
Ensembl chr37:16,541,562...16,619,554 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO RGD PMID:21114432 RGD:6483800 NCBI chr 1:111,476,804...111,490,876
Ensembl chr 1:111,476,893...111,490,880 		JBrowse link
G PON1 paraoxonase 1 ISO mRNA:decreased expression:terminal ileum 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:terminal ileum RGD PMID:17664137 RGD:5509924 NCBI chr14:20,615,180...20,642,807
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981 		JBrowse link
G PRF1 perforin 1 ISO DNA:hypermethylation RGD PMID:22021194 RGD:6482789 NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864 		JBrowse link
G PRKCQ protein kinase C theta ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337 		JBrowse link
G PTAFR platelet activating factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 2:72,225,386...72,256,353
Ensembl chr 2:72,225,386...72,256,352 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:colon RGD PMID:21763290 RGD:5508200 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:17554261 NCBI chr 7:78,160,564...78,252,382
Ensembl chr 7:78,160,589...78,252,719 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA:SNP:cds:rs2476601 (human) RGD PMID:18587394 RGD:6484668 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr26:30,918,788...30,920,873
Ensembl chr26:30,918,811...30,920,868 		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 SLC11A1 solute carrier family 11 member 1 no_association ISO DNA:polymorphism: :823C>T (human)
DNA:polymorphism:promoter (human)
DNA:point mutation:promoter:-237C>T (human)
DNA:repeat, polymorphisms:promoter, intron:p.D543N (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:promoter (human)
DNA:insertion/deletion:3' utr (human)		 RGD
CTD		 PMID:11929588 PMID:15757519 PMID:16059695 PMID:17131479 PMID:17385031 More... RGD:5684938 RGD:5684939 RGD:5684941 RGD:5684942 RGD:5684952 RGD:5684956 RGD:5684968 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 susceptibility ISO DNA:snp, haplotype:promoter:g.-207G>C (human) RGD PMID:15107849 RGD:1580609 NCBI chr11:20,659,023...20,686,359
Ensembl chr11:20,598,888...20,683,087 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:27492617 PMID:28492532 PMID:32897876 PMID:33139556 NCBI chr32:23,727,920...23,801,459
Ensembl chr32:23,729,476...23,800,941 		JBrowse link
G SMAD3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO DNA:SNPs: : (rs744166, rs3816769) (human)
DNA:SNP: : (rs744166) (human)		 RGD PMID:20109474 PMID:22269120 RGD:6483020 RGD:6483027 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G TAGAP T cell activation RhoGTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 PMID:36038634 NCBI chr 1:48,382,688...48,392,977
Ensembl chr 1:48,383,504...48,392,188 		JBrowse link
G TCF7 transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24994854 NCBI chr11:22,313,113...22,346,221
Ensembl chr11:22,313,105...22,344,004 		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 TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17914947 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TLR9 toll like receptor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15236225 PMID:17914947 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 treatment ISO protein:increased expression:intestine mucosa
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10700533 PMID:21359923 PMID:21829567 PMID:22531889 RGD:5130893 RGD:8661753 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 treatment ISO protein:increased expression:large intestine mucosa (rat) RGD PMID:21359923 PMID:22531889 RGD:5130893 RGD:8661753 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:large intestine mucosa (rat) RGD PMID:21359923 RGD:5130893 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191 		JBrowse link
G TNFSF15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37156999 NCBI chr11:68,887,858...68,909,406
Ensembl chr11:68,893,084...68,909,602 		JBrowse link
G TYK2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr20:50,747,145...50,770,008
Ensembl chr20:50,748,329...50,769,216 		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 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
G VTN vitronectin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr 9:42,617,860...42,620,825
Ensembl chr 9:42,614,941...42,630,864 		JBrowse link
ileitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:22848538 RGD:8661712 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:21945903 RGD:6892917 NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217 		JBrowse link
G CD80 CD80 molecule ISO RGD PMID:22068168 RGD:6902902 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380 		JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27580383 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL17A interleukin 17A ISO mRNA:increased expression:ileum RGD PMID:18536735 RGD:4837793 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513 		JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:10647630 NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286 		JBrowse link
G SERPINA1 serpin family A member 1 treatment ISO RGD PMID:23835442 RGD:14695050 NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435 		JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:18266231 RGD:2312714 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241 		JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:17255219 PMID:18266231 RGD:2312714 RGD:7241089 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
Pediatric Crohn's Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II, thrombin ISO RGD PMID:21287673 RGD:5147769 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:duodenal mucosa RGD PMID:27468194 RGD:25671466 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:11321389 RGD:7394742 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      gastrointestinal system disease 6496
        gastroenteritis 524
          inflammatory bowel disease 438
            Crohn's disease 118
              Crohn's colitis 0
              Pediatric Crohn's Disease 3
              gastroduodenal Crohn's disease 0
              ileitis + 9
              ileocolitis 0
              jejunoileitis 0
              perianal Crohn's disease 0
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Immune & Inflammatory Diseases 5008
        Inflammation 2430
          gastroenteritis 524
            inflammatory bowel disease 438
              Crohn's disease 118
                Crohn's colitis 0
                Pediatric Crohn's Disease 3
                gastroduodenal Crohn's disease 0
                ileitis + 9
                ileocolitis 0
                jejunoileitis 0
                perianal Crohn's disease 0
paths to the root