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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:A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.
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
 related_synonym: CROHN DISEASE, ASSOCIATION WITH;   INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO
 primary_id: MESH:D003424
 alt_id: OMIM:266600
 xref: GARD:10232;   NCI:C2965
For additional species annotation, visit the Alliance of Genome Resources.


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Crohn's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO RGD PMID:15505619 RGD:1598568 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:21829567, PMID:16432373 RGD:5686726 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Crohn disease, association with ClinVar PMID:9120024, PMID:9894356, PMID:13937884, PMID:15077204, PMID:17047091, PMID:20978123 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO protein:increased expression:large intestine epithelium RGD PMID:7679252 RGD:5509621 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G Alpi alkaline phosphatase, intestinal ISO protein:decreased expression:colonic mucosa RGD PMID:22783049 RGD:14367879 NCBI chr 9:94,197,616...94,201,910
Ensembl chr 9:94,197,618...94,201,084
JBrowse link
G Apln apelin ISO protein:increased expression:intestine RGD PMID:17391779 RGD:1626177 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Apoa4 apolipoprotein A4 severity ISO protein:decreased expression:blood plasma (human) RGD PMID:17206692 RGD:5685660 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Aqp7 aquaporin 7 severity ISO mRNA, protein:decreased expression:colon RGD PMID:15338270 RGD:1626292 NCBI chr 5:57,358,297...57,372,332
Ensembl chr 5:57,358,327...57,372,239
JBrowse link
G Atg16l1 autophagy related 16-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756, PMID:18438406 NCBI chr 9:94,879,876...94,915,231
Ensembl chr 9:94,879,745...94,915,228
JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 5:47,458,891...47,807,176
Ensembl chr 5:47,546,014...47,807,166
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 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Bpi bactericidal/permeability-increasing protein ISO RGD PMID:15758620 RGD:1580079 NCBI chr 3:154,741,627...154,768,584
Ensembl chr 3:154,741,631...154,768,640
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccny cyclin Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr17:62,332,537...62,462,644
Ensembl chr17:62,332,537...62,462,644
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 chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr19:53,740,763...53,754,738
Ensembl chr19:53,743,383...53,754,602
JBrowse link
G Cldn1 claudin 1 ISO RGD PMID:21748286 RGD:11341809 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Crp C-reactive protein severity ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:11339241, PMID:22421709 RGD:6482309 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr13:56,015,813...56,242,041
Ensembl chr13:56,015,901...56,236,677
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Efs embryonal Fyn-associated substrate ISS MouseDO NCBI chr15:33,579,952...33,590,217
Ensembl chr15:33,578,381...33,589,522
JBrowse link
G Esr2 estrogen receptor 2 disease_progression ISO mRNA:decreased expression:colon RGD PMID:21252046 RGD:5508810 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO associated with Fistula;protein:decreased activity:plasma: RGD PMID:7611208 RGD:10450739 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F2 coagulation factor II ISO RGD PMID:21593018 RGD:5147754 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO DNA:polymorphism: :p.A519G (human) RGD PMID:20848524 RGD:5147918 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa treatment ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14987319 RGD:1304543 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Fga fibrinogen alpha chain ISO RGD PMID:19683480 RGD:5688758 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Fpr2 formyl peptide receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21659618 NCBI chr 1:59,800,558...59,809,507
Ensembl chr 1:59,800,984...59,802,401
JBrowse link
G Fut2 fucosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 1:101,631,633...101,651,668
Ensembl chr 1:101,631,635...101,651,668
JBrowse link
G Gc GC, vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human) RGD PMID:21832969 RGD:5509866 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23566200 NCBI chr 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO protein:decreased expression:erythrocyte RGD PMID:20186929 RGD:11352754 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:26604430 RGD:11538341 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:17565649 RGD:5490554 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hfe homeostatic iron regulator treatment ISO DNA:SNP: :rs2071303 (human) RGD PMID:27115882 RGD:14701051 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:28126021 NCBI chr20:4,879,998...4,965,191
Ensembl chr20:4,959,294...4,964,963
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:15638228 RGD:1625756 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567, PMID:28070144 RGD:14974261 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463, PMID:11113068, PMID:29899181 RGD:11049181, RGD:14975133 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:altered methylation: : RGD PMID:22021194 RGD:6482789 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNPs:multiple:
CTD Direct Evidence: marker/mechanism
CTD PMID:17435756, PMID:18438406, PMID:17068223 RGD:8549568 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:10700533, PMID:21829567 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irgm immunity-related GTPase M ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261, PMID:18438406, PMID:19165925, PMID:21278745 NCBI chr10:34,213,885...34,221,968
Ensembl chr10:34,213,936...34,221,928
JBrowse link
G Jak2 Janus kinase 2 ISO DNA:SNP: :rs10758669 (human) RGD PMID:22269120 RGD:6483020 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:colon RGD PMID:19013462 RGD:5684406 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO DNA:point mutation: :p.T2397M (rs3761863) (human) RGD PMID:21983832 RGD:5508401 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Madcam1 mucosal vascular addressin cell adhesion molecule 1 IMP RGD PMID:11703369 RGD:2311550 NCBI chr 7:12,918,352...12,922,509
Ensembl chr 7:12,918,710...12,922,112
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:cds: RGD PMID:21702710 RGD:12910842 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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 chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21364546 RGD:6483536 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mst1 macrophage stimulating 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr 8:116,857,716...116,862,286
Ensembl chr 8:116,857,684...116,862,423
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28002332 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr 7:119,481,711...119,499,426
Ensembl chr 7:119,482,272...119,499,425
JBrowse link
G Nkx2-3 NK2 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261, PMID:18438405, PMID:18438406 NCBI chr 1:263,361,238...263,371,043
Ensembl chr 1:263,367,266...263,370,219
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19098911 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility
no_association
ISO DNA:frameshift mutation, missense mutations
ClinVar Annotator: match by term: Inflammatory bowel disease 1
ClinVar Annotator: match by term: Enteritis, Granulomatous
ClinVar Annotator: match by term: Crohn disease
ClinVar Annotator: match by term: REGIONAL ENTERITIS
ClinVar Annotator: match by term: Crohn's disease
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human)
DNA:missense mutations: :multiple (human)
ClinVar
OMIM
CTD
PMID:11385576, PMID:11385577, PMID:11425413, PMID:11528384, PMID:11875755, PMID:11910337, PMID:12019468, PMID:12115249, PMID:12512038, PMID:12557156, PMID:12577202, PMID:12626759, PMID:12630966, PMID:14508222, PMID:14765395, PMID:15024686, PMID:15044951, PMID:15190267, PMID:15198989, PMID:15320482, PMID:15459013, PMID:15571588, PMID:15712650, PMID:15770725, PMID:15967635, PMID:16278823, PMID:16485124, PMID:17435756, PMID:17568627, PMID:18056399, PMID:18240302, PMID:18371140, PMID:18419343, PMID:18438406, PMID:18489434, PMID:18507017, PMID:18541930, PMID:19467619, PMID:19713276, PMID:20032092, PMID:20230816, PMID:20959815, PMID:21274544, PMID:21335489, PMID:21548950, PMID:21830272, PMID:21914217, PMID:21983784, PMID:22319155, PMID:22684479, PMID:22926499, PMID:22942351, PMID:23102769, PMID:23334666, PMID:24033266, PMID:24391456, PMID:24583628, PMID:24803813, PMID:24960071, PMID:25741868, PMID:26070941, PMID:26164256, PMID:26316104, PMID:26500656, PMID:27306066, PMID:28492532, PMID:28814775, PMID:11385576, PMID:21155887, PMID:21983784 RGD:1600778, RGD:5508730, RGD:5508719 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Ocln occludin ISO RGD PMID:21748286 RGD:11341809 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:serum RGD PMID:17980128 RGD:6483592 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Phox2b paired-like homeobox 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
JBrowse link
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing ISS MouseDO NCBI chr 9:71,911,744...72,005,816
Ensembl chr 9:71,915,421...72,005,838
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:21114432 RGD:6483800 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Pon1 paraoxonase 1 ISO mRNA:decreased expression:terminal ileum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:decreased expression:terminal ileum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Prf1 perforin 1 ISO DNA:hypermethylation RGD PMID:22021194 RGD:6482789 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:colon RGD PMID:21763290 RGD:5508200 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261 NCBI chr18:63,415,298...63,489,240
Ensembl chr18:63,415,306...63,488,027
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA:SNP:cds:rs2476601 (human) RGD PMID:18587394 RGD:6484668 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:29358886 RGD:14974239 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25559196 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO RGD PMID:12073072 RGD:6480648 NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
JBrowse link
G Sell selectin L ISO DNA:polymorphism: :p.F206L (human) RGD PMID:19212205 RGD:13464267 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Slc11a1 solute carrier family 11 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 PMID:16059695, PMID:18454481, PMID:11929588, PMID:15757519, PMID:16059695, PMID:17131479, PMID:17385031, PMID:18340647 RGD:5684938, RGD:5684968, RGD:5684956, RGD:5684952, RGD:5684942, RGD:5684941, RGD:5684939 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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 chr10:39,201,101...39,228,090
Ensembl chr10:39,201,107...39,323,853
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
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 chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 1:47,493,990...47,503,492
Ensembl chr 1:47,493,994...47,502,952
JBrowse link
G Tcf7 transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24994854 NCBI chr10:37,616,033...37,646,027
Ensembl chr10:37,617,279...37,645,802
JBrowse link
G Thbd thrombomodulin ISO protein:decreased expression:colon, blood vessel RGD PMID:17557119 RGD:5685011 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17914947 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15236225, PMID:17914947 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor treatment IEP
ISO
protein:increased expression:intestine mucosa
CTD Direct Evidence: marker/mechanism
CTD PMID:10700533, PMID:21829567, PMID:21359923, PMID:22531889 RGD:5130893, RGD:8661753 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment IEP protein:increased expression:large intestine mucosa (rat) RGD PMID:21359923, PMID:22531889 RGD:5130893, RGD:8661753 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B IEP protein:increased expression:large intestine mucosa (rat) RGD PMID:21359923 RGD:5130893 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO DNA:polymorphism:promoter RGD PMID:22398043 RGD:6482850 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma, large intestine mucosa RGD PMID:19013462 RGD:5684406 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 ISO RGD PMID:17611633 RGD:5685618 NCBI chr 8:130,283,453...130,313,431 JBrowse link
G Vtn vitronectin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr10:65,767,960...65,771,040
Ensembl chr10:65,767,053...65,771,038
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
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21945903 RGD:6892917 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:22068168 RGD:6902902 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27580383 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il17a interleukin 17A IEP mRNA:increased expression:ileum RGD PMID:18536735 RGD:4837793 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:10647630 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Serpina1 serpin family A member 1 treatment ISO RGD PMID:23835442 RGD:14695050 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:18266231 RGD:2312714 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO
IMP
RGD PMID:17255219, PMID:18266231 RGD:7241089, RGD:2312714 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
Pediatric Crohn's Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 ISO mRNA:increased expression:duodenum:non-inflamed tissue RGD PMID:16917230 RGD:5685614 NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
JBrowse link
G F2 coagulation factor II ISO RGD PMID:21287673 RGD:5147769 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:duodenal mucosa RGD PMID:27468194 RGD:25671466 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:11321389 RGD:7394742 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      gastrointestinal system disease 4621
        intestinal disease 1503
          inflammatory bowel disease 342
            Crohn's disease 106
              Crohn's colitis 0
              Pediatric Crohn's Disease 4
              gastroduodenal Crohn's disease 0
              ileitis + 9
              ileocolitis 0
              jejunoileitis 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        Inflammation 2164
          gastroenteritis 416
            inflammatory bowel disease 342
              Crohn's disease 106
                Crohn's colitis 0
                Pediatric Crohn's Disease 4
                gastroduodenal Crohn's disease 0
                ileitis + 9
                ileocolitis 0
                jejunoileitis 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.