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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 Abcb1a ATP-binding cassette, sub-family B member 1A susceptibility ISO RGD PMID:15505619 RGD:1598568 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21829567 PMID:16432373 RGD:5686726 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		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 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase ISO protein:increased expression:large intestine epithelium RGD PMID:7679252 RGD:5509621 NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO protein:decreased expression:colonic mucosa RGD PMID:22783049 RGD:14367879 NCBI chr 1:87,025,724...87,029,328
Ensembl chr 1:87,025,724...87,029,328 		JBrowse link
G Apln apelin ISO protein:increased expression:intestine RGD PMID:17391779 RGD:1626177 NCBI chr  X:47,114,023...47,123,730
Ensembl chr  X:47,114,023...47,123,730 		JBrowse link
G Apoa4 apolipoprotein A-IV severity ISO protein:decreased expression:blood plasma (human) RGD PMID:17206692 RGD:5685660 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757 		JBrowse link
G Aqp7 aquaporin 7 severity ISO mRNA, protein:decreased expression:colon RGD PMID:15338270 RGD:1626292 NCBI chr 4:41,033,074...41,048,237
Ensembl chr 4:41,033,074...41,048,139 		JBrowse link
G Atg16l1 autophagy related 16 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 PMID:18438406 NCBI chr 1:87,683,730...87,720,150
Ensembl chr 1:87,683,592...87,720,150 		JBrowse link
G Atg4c autophagy related 4C, cysteine peptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 4:99,077,181...99,185,495
Ensembl chr 4:99,082,171...99,148,024 		JBrowse link
G Bach2 BTB and CNC homology, basic leucine zipper transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 4:32,238,413...32,586,109
Ensembl chr 4:32,238,804...32,586,108 		JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO mRNA:decreased expression:bone
protein:undercarboxylated:serum		 RGD PMID:22535626 PMID:21482072 RGD:6483321, RGD:6483546 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Bpi bactericidal permeablility increasing protein ISO RGD PMID:15758620 RGD:1580079 NCBI chr 2:158,099,983...158,126,453
Ensembl chr 2:158,100,014...158,126,451 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccny cyclin Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr18:9,312,304...9,450,188
Ensembl chr18:9,312,304...9,450,154 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903 		JBrowse link
G Cd40 CD40 antigen 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 chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 ISO mRNA:increased expression:colon: RGD PMID:27051591 RGD:151667910 NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317 		JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr 8:120,893,136...120,904,225
Ensembl chr 8:120,893,136...120,904,205 		JBrowse link
G Cldn1 claudin 1 ISO RGD PMID:21748286 RGD:11341809 NCBI chr16:26,175,395...26,190,589
Ensembl chr16:26,175,392...26,190,591 		JBrowse link
G Col6a3 collagen, type VI, alpha 3 ISO protein:increased expression:serum (human) RGD PMID:32245981 RGD:401900121 NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693 		JBrowse link
G Crp C-reactive protein, pentraxin-related severity ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11339241 PMID:22421709 RGD:6482309 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 1:138,891,447...139,103,781
Ensembl chr 1:138,891,173...139,106,698 		JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443 		JBrowse link
G Dok2 docking protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr14:71,003,336...71,015,934
Ensembl chr14:71,003,476...71,015,935 		JBrowse link
G Duox2 dual oxidase 2 ISO mRNA:increased expression:colon (human) RGD PMID:19759286 RGD:40924645 NCBI chr 2:122,109,727...122,129,221
Ensembl chr 2:122,109,728...122,128,930 		JBrowse link
G Efs embryonal Fyn-associated substrate IAGP MouseDO NCBI chr14:55,154,087...55,164,222
Ensembl chr14:55,153,992...55,163,583 		JBrowse link
G Esr2 estrogen receptor 2 (beta) disease_progression ISO mRNA:decreased expression:colon RGD PMID:21252046 RGD:5508810 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033 		JBrowse link
G F13a1 coagulation factor XIII, A1 subunit ISO associated with Fistula;protein:decreased activity:plasma: RGD PMID:7611208 RGD:10450739 NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220 		JBrowse link
G F2 coagulation factor II ISO RGD PMID:21593018 RGD:5147754 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III susceptibility ISO DNA:polymorphism: :p.A519G (human) RGD PMID:20848524 RGD:5147918 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV treatment ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14987319 RGD:1304543 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Fga fibrinogen alpha chain ISO RGD PMID:19683480 RGD:5688758 NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO mRNA:increased expression:colon, ileum, myofibroblasts (human) RGD PMID:9358773 RGD:126928145 NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Fmnl2 formin-like 2 ISO ClinVar Annotator: match by term: Crohn disease ClinVar NCBI chr 2:52,747,743...53,023,816
Ensembl chr 2:52,747,872...53,023,816 		JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359 		JBrowse link
G Fpr2 formyl peptide receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21659618 NCBI chr17:18,108,086...18,114,214
Ensembl chr17:18,108,086...18,114,214 		JBrowse link
G Fut2 fucosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 7:45,298,015...45,315,818
Ensembl chr 7:45,298,015...45,315,818 		JBrowse link
G Gc vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human) RGD PMID:21832969 RGD:5509866 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23566200 NCBI chr 1:74,316,269...74,318,868
Ensembl chr 1:74,317,709...74,318,783 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO protein:decreased expression:erythrocyte RGD PMID:20186929 RGD:11352754 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:26604430 RGD:11538341 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion: : RGD PMID:17565649 RGD:5490554 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:29358886 RGD:14974239 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25559196 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-Pa histocompatibility 2, P region alpha locus ISO RGD PMID:12073072 RGD:6480648 NCBI chr17:34,303,587...34,304,826
Ensembl chr17:34,303,575...34,304,797 		JBrowse link
G Hfe homeostatic iron regulator treatment ISO DNA:SNP: :rs2071303 (human) RGD PMID:27115882 RGD:14701051 NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837 		JBrowse link
G Hgfac hepatocyte growth factor activator ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 5:35,198,853...35,205,805
Ensembl chr 5:35,198,853...35,205,805 		JBrowse link
G Hspa1l heat shock protein 1-like ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:25741868 PMID:28126021 NCBI chr17:35,191,679...35,198,204
Ensembl chr17:35,191,679...35,198,261 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:15638228 RGD:1625756 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21829567 PMID:28070144 RGD:14974261 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Il10 interleukin 10 treatment ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21102463 PMID:11113068 PMID:29899181 RGD:11049181, RGD:14975133 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il10ra interleukin 10 receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447 		JBrowse link
G Il12b interleukin 12b ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860 		JBrowse link
G Il21r interleukin 21 receptor ISO DNA:altered methylation: : RGD PMID:22021194 RGD:6482789 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNPs:multiple:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17435756 PMID:18438406 PMID:17068223 RGD:8549568 NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839 		JBrowse link
G Il2ra interleukin 2 receptor, alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 PMID:10700533 PMID:21829567 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Irgm1 immunity-related GTPase family M member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261 PMID:18438406 PMID:19165925 PMID:21278745 NCBI chr11:48,756,072...48,762,247
Ensembl chr11:48,752,795...48,762,510 		JBrowse link
G Jak2 Janus kinase 2 ISO DNA:SNP: :rs10758669 (human) RGD PMID:22269120 RGD:6483020 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:colon RGD PMID:19013462 RGD:5684406 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO DNA:point mutation: :p.T2397M (rs3761863) (human) RGD PMID:21983832 RGD:5508401 NCBI chr15:91,556,994...91,700,327
Ensembl chr15:91,557,378...91,700,323 		JBrowse link
G Madcam1 mucosal vascular addressin cell adhesion molecule 1 ISO RGD PMID:11703369 RGD:2311550 NCBI chr10:79,500,393...79,504,376
Ensembl chr10:79,500,393...79,504,371 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO DNA:polymorphisms:cds: RGD PMID:21702710 RGD:12910842 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:feces RGD PMID:30927737 PMID:29668922 PMID:29325325 RGD:21079443, RGD:24922213, RGD:24922207 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mir21a microRNA 21a ISO RNA:increased expression:leukocyte RGD PMID:25144570 RGD:41404530 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO RGD PMID:21364546 RGD:6483536 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		JBrowse link
G Mst1 macrophage stimulating 1 (hepatocyte growth factor-like) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr 9:107,957,607...107,962,226
Ensembl chr 9:107,957,635...107,962,202 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28002332 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr15:78,128,324...78,146,782
Ensembl chr15:78,129,001...78,146,780 		JBrowse link
G Nkx2-3 NK2 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261 PMID:18438405 PMID:18438406 NCBI chr19:43,600,764...43,604,331
Ensembl chr19:43,600,764...43,604,331 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19098911 NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility
no_association		 ISO DNA:frameshift mutation, missense mutations
ClinVar Annotator: match by term: Crohn disease | ClinVar Annotator: match by term: Enteritis, Granulomatous | ClinVar Annotator: match by term: Inflammatory bowel disease 1
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human)
DNA:missense mutations: :multiple (human)		 ClinVar
CTD
OMIM
RGD		 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11528384 PMID:11875755 More... RGD:1600778, RGD:5508730, RGD:5508719 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447 		JBrowse link
G Ocln occludin ISO RGD PMID:21748286 RGD:11341809 NCBI chr13:100,633,012...100,689,226
Ensembl chr13:100,633,015...100,689,226 		JBrowse link
G Pbrm1 polybromo 1 ISO mRNA:decreased expression:colon RGD PMID:28940253 RGD:150340627 NCBI chr14:30,741,095...30,843,549
Ensembl chr14:30,741,095...30,843,549 		JBrowse link
G Pdlim5 PDZ and LIM domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 3:141,945,346...142,101,480
Ensembl chr 3:141,945,351...142,101,454 		JBrowse link
G Pgf placental growth factor ISO protein:increased expression:serum RGD PMID:17980128 RGD:6483592 NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564 		JBrowse link
G Phox2b paired-like homeobox 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644 		JBrowse link
G Pikfyve phosphoinositide kinase, FYVE type zinc finger containing IAGP MouseDO NCBI chr 1:65,225,796...65,317,855
Ensembl chr 1:65,225,842...65,317,854 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:21114432 RGD:6483800 NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393 		JBrowse link
G Pon1 paraoxonase 1 ISO mRNA:decreased expression:terminal ileum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:decreased expression:terminal ileum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 6:5,216,253...5,256,236
Ensembl chr 6:5,220,852...5,256,286 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360 		JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO DNA:hypermethylation RGD PMID:22021194 RGD:6482789 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459 		JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033 		JBrowse link
G Ptafr platelet-activating factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 4:132,291,378...132,309,994
Ensembl chr 4:132,291,378...132,309,994 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:colon RGD PMID:21763290 RGD:5508200 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261 NCBI chr18:67,798,571...67,857,697
Ensembl chr18:67,798,581...67,857,665 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) ISO DNA:SNP:cds:rs2476601 (human) RGD PMID:18587394 RGD:6484668 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr16:16,948,002...16,950,247
Ensembl chr16:16,948,002...16,950,247 		JBrowse link
G Sell selectin, lymphocyte ISO DNA:polymorphism: :p.F206L (human) RGD PMID:19212205 RGD:13464267 NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 no_association ISO DNA:repeat, polymorphisms:promoter, intron:p.D543N (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human)
DNA:point mutation:promoter:-237C>T (human)
DNA:polymorphism: :823C>T (human)
DNA:polymorphisms:promoter (human)
DNA:insertion/deletion:3' utr (human)		 CTD
RGD		 PMID:16059695 PMID:18454481 PMID:11929588 PMID:15757519 PMID:16059695 More... RGD:5684938, RGD:5684968, RGD:5684956, RGD:5684952, RGD:5684942, RGD:5684941, RGD:5684939 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Slc22a5 solute carrier family 22 (organic cation transporter), member 5 susceptibility ISO DNA:snp, haplotype:promoter:g.-207G>C (human) RGD PMID:15107849 RGD:1580609 NCBI chr11:53,755,368...53,782,609
Ensembl chr11:53,755,368...53,782,486 		JBrowse link
G Slc39a8 solute carrier family 39 (metal ion transporter), member 8 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:27492617 PMID:28492532 PMID:32897876 PMID:33139556 NCBI chr 3:135,522,644...135,594,333
Ensembl chr 3:135,531,040...135,594,333 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO DNA:SNP: : (rs744166) (human)
DNA:SNPs: : (rs744166, rs3816769) (human)		 RGD PMID:22269120 PMID:20109474 RGD:6483020, RGD:6483027 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Tagap T cell activation Rho GTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 PMID:36038634 NCBI chr17:8,144,832...8,153,729
Ensembl chr17:8,144,832...8,153,729 		JBrowse link
G Tcf7 transcription factor 7, T cell specific ISO CTD Direct Evidence: marker/mechanism CTD PMID:24994854 NCBI chr11:52,137,347...52,174,211
Ensembl chr11:52,143,198...52,174,158 		JBrowse link
G Thbd thrombomodulin ISO protein:decreased expression:colon, blood vessel RGD PMID:17557119 RGD:5685011 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17914947 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr9 toll-like receptor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15236225 PMID:17914947 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Tnf tumor necrosis factor treatment ISO protein:increased expression:intestine mucosa
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10700533 PMID:21829567 PMID:21359923 PMID:22531889 RGD:5130893, RGD:8661753 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a treatment ISO protein:increased expression:large intestine mucosa (rat) RGD PMID:21359923 PMID:22531889 RGD:5130893, RGD:8661753 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO protein:increased expression:large intestine mucosa (rat) RGD PMID:21359923 RGD:5130893 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Tnfsf15 tumor necrosis factor (ligand) superfamily, member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37156999 NCBI chr 4:63,642,837...63,663,296
Ensembl chr 4:63,642,840...63,663,350 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 ISO DNA:polymorphism:promoter RGD PMID:22398043 RGD:6482850 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma, large intestine mucosa RGD PMID:19013462 RGD:5684406 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 ISO RGD PMID:17611633 RGD:5685618 NCBI chr 9:121,471,782...121,502,020
Ensembl chr 9:121,471,782...121,502,020 		JBrowse link
G Vtn vitronectin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr11:78,389,946...78,393,151
Ensembl chr11:78,389,917...78,393,150 		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 IMP RGD PMID:22848538 RGD:8661712 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 IMP RGD PMID:21945903 RGD:6892917 NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726 		JBrowse link
G Cd80 CD80 antigen IEP RGD PMID:22068168 RGD:6902902 NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27580383 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il17a interleukin 17A ISO mRNA:increased expression:ileum RGD PMID:18536735 RGD:4837793 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Itgam integrin alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:10647630 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:18266231 RGD:2312714 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr4 toll-like receptor 4 IMP
ISO		 RGD PMID:17255219 PMID:18266231 RGD:7241089, RGD:2312714 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
Pediatric Crohn's Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp3a13 cytochrome P450, family 3, subfamily a, polypeptide 13 ISO mRNA:increased expression:duodenum:non-inflamed tissue RGD PMID:16917230 RGD:5685614 NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881 		JBrowse link
G F2 coagulation factor II ISO RGD PMID:21287673 RGD:5147769 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:duodenal mucosa RGD PMID:27468194 RGD:25671466 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:11321389 RGD:7394742 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      gastrointestinal system disease 6790
        gastroenteritis 538
          inflammatory bowel disease 454
            Crohn's disease 123
              Crohn's colitis 0
              Pediatric Crohn's Disease 4
              gastroduodenal Crohn's disease 0
              ileitis + 8
              ileocolitis 0
              jejunoileitis 0
              perianal Crohn's disease 0
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      Immune & Inflammatory Diseases 5180
        Inflammation 2530
          gastroenteritis 538
            inflammatory bowel disease 454
              Crohn's disease 123
                Crohn's colitis 0
                Pediatric Crohn's Disease 4
                gastroduodenal Crohn's disease 0
                ileitis + 8
                ileocolitis 0
                jejunoileitis 0
                perianal Crohn's disease 0
paths to the root