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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.



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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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO protein:increased expression:large intestine epithelium RGD PMID:7679252 RGD:5509621 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Alpi alkaline phosphatase, intestinal ISO protein:decreased expression:colonic mucosa RGD PMID:22783049 RGD:14367879 NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877
JBrowse link
G Apln apelin ISO protein:increased expression:intestine RGD PMID:17391779 RGD:1626177 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Apoa4 apolipoprotein A4 severity ISO protein:decreased expression:blood plasma (human) RGD PMID:17206692 RGD:5685660 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Aqp7 aquaporin 7 severity ISO mRNA, protein:decreased expression:colon RGD PMID:15338270 RGD:1626292 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
JBrowse link
G Atg16l1 autophagy related 16-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 PMID:18438406 NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
JBrowse link
G Atg4c autophagy related 4C, cysteine peptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 5:113,867,218...113,935,534
Ensembl chr 5:113,867,092...113,934,830
JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
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 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Bpi bactericidal/permeability-increasing protein ISO RGD PMID:15758620 RGD:1580079 NCBI chr 3:146,909,626...146,936,487
Ensembl chr 3:146,909,629...146,936,221
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccny cyclin Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr17:57,385,002...57,512,860
Ensembl chr17:57,384,176...57,522,378
JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO mRNA:increased expression:colon: RGD PMID:27051591 RGD:151667910 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr19:48,217,617...48,229,418
Ensembl chr19:48,215,486...48,229,404
JBrowse link
G Cldn1 claudin 1 ISO RGD PMID:21748286 RGD:11341809 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO protein:increased expression:serum (human) RGD PMID:32245981 RGD:401900121 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
JBrowse link
G Crp C-reactive protein severity ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11339241 PMID:22421709 RGD:6482309 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr13:50,545,324...50,772,922
Ensembl chr13:50,545,836...50,770,601
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dok2 docking protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr15:45,826,984...45,841,409
Ensembl chr15:45,827,398...45,841,402
JBrowse link
G Duox2 dual oxidase 2 ISO mRNA:increased expression:colon (human) RGD PMID:19759286 RGD:40924645 NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
JBrowse link
G Efs embryonal Fyn-associated substrate ISS MouseDO NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
JBrowse link
G Esr2 estrogen receptor 2 disease_progression ISO mRNA:decreased expression:colon RGD PMID:21252046 RGD:5508810 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO associated with Fistula;protein:decreased activity:plasma: RGD PMID:7611208 RGD:10450739 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21593018 RGD:5147754 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility ISO DNA:polymorphism: :p.A519G (human) RGD PMID:20848524 RGD:5147918 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr3a Fc gamma receptor 3A treatment ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14987319 RGD:1304543 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Fga fibrinogen alpha chain ISO RGD PMID:19683480 RGD:5688758 NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO mRNA:increased expression:colon, ileum, myofibroblasts (human) RGD PMID:9358773 RGD:126928145 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
JBrowse link
G Fmnl2 formin-like 2 ISO ClinVar Annotator: match by term: Crohn disease ClinVar NCBI chr 3:37,348,791...37,624,746
Ensembl chr 3:37,348,574...37,624,754
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Fpr2 formyl peptide receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21659618 NCBI chr 1:58,776,592...58,785,227
Ensembl chr 1:58,776,752...58,786,019
JBrowse link
G Fut2 fucosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 1:96,119,549...96,139,567
Ensembl chr 1:96,119,371...96,140,360
JBrowse link
G Gc GC, vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human) RGD PMID:21832969 RGD:5509866 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23566200 NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO protein:decreased expression:erythrocyte RGD PMID:20186929 RGD:11352754 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:26604430 RGD:11538341 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:17565649 RGD:5490554 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hfe homeostatic iron regulator treatment ISO DNA:SNP: :rs2071303 (human) RGD PMID:27115882 RGD:14701051 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hgfac HGF activator ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
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:25741868 PMID:28126021 NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:15638228 RGD:1625756 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21829567 PMID:28070144 RGD:14974261 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21102463 PMID:11113068 PMID:29899181 RGD:11049181, RGD:14975133 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:altered methylation: : RGD PMID:22021194 RGD:6482789 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:10700533 PMID:21829567 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irgm immunity-related GTPase M ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261 PMID:18438406 PMID:19165925 PMID:21278745 NCBI chr10:33,233,513...33,241,594
Ensembl chr10:33,233,455...33,241,578
JBrowse link
G Jak2 Janus kinase 2 ISO DNA:SNP: :rs10758669 (human) RGD PMID:22269120 RGD:6483020 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:colon RGD PMID:19013462 RGD:5684406 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO DNA:point mutation: :p.T2397M (rs3761863) (human) RGD PMID:21983832 RGD:5508401 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
JBrowse link
G Madcam1 mucosal vascular addressin cell adhesion molecule 1 IMP RGD PMID:11703369 RGD:2311550 NCBI chr 7:10,036,301...10,039,703
Ensembl chr 7:10,036,301...10,039,703
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:cds: RGD PMID:21702710 RGD:12910842 NCBI chr 1:228,016,439...228,024,736 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 chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:leukocyte RGD PMID:25144570 RGD:41404530 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21364546 RGD:6483536 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Mst1 macrophage stimulating 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28002332 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
JBrowse link
G Nkx2-3 NK2 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261 PMID:18438405 PMID:18438406 NCBI chr 1:242,478,130...242,481,083
Ensembl chr 1:242,478,130...242,481,083
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19098911 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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 chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Ocln occludin ISO RGD PMID:21748286 RGD:11341809 NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
JBrowse link
G Pbrm1 polybromo 1 ISO mRNA:decreased expression:colon RGD PMID:28940253 RGD:150340627 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
JBrowse link
G Pdlim5 PDZ and LIM domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 2:230,952,251...231,120,329
Ensembl chr 2:230,952,248...231,120,275
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:serum RGD PMID:17980128 RGD:6483592 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Phox2b paired-like homeobox 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17435756 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing ISS MouseDO NCBI chr 9:66,563,747...66,657,873
Ensembl chr 9:66,563,727...66,657,868
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:21114432 RGD:6483800 NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
JBrowse link
G Pon1 paraoxonase 1 ISO mRNA:decreased expression:terminal ileum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:decreased expression:terminal ileum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21829567 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Prf1 perforin 1 ISO DNA:hypermethylation RGD PMID:22021194 RGD:6482789 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
JBrowse link
G Ptafr platelet-activating factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:colon RGD PMID:21763290 RGD:5508200 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17554261 NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA:SNP:cds:rs2476601 (human) RGD PMID:18587394 RGD:6484668 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:29358886 RGD:14974239 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25559196 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO RGD PMID:12073072 RGD:6480648 NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36038634 NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902
JBrowse link
G Sell selectin L ISO DNA:polymorphism: :p.F206L (human) RGD PMID:19212205 RGD:13464267 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
JBrowse link
G 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
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 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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 chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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 chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 PMID:36038634 NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
JBrowse link
G Tcf7 transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24994854 NCBI chr10:36,423,443...36,454,350
Ensembl chr10:36,423,445...36,453,535
JBrowse link
G Thbd thrombomodulin ISO protein:decreased expression:colon, blood vessel RGD PMID:17557119 RGD:5685011 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17914947 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr9 toll-like receptor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15236225 PMID:17914947 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor treatment IEP
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B IEP protein:increased expression:large intestine mucosa (rat) RGD PMID:21359923 RGD:5130893 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37156999 NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21102463 NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO DNA:polymorphism:promoter RGD PMID:22398043 RGD:6482850 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma, large intestine mucosa RGD PMID:19013462 RGD:5684406 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 ISO RGD PMID:17611633 RGD:5685618 NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585
JBrowse link
G Vtn vitronectin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19751734 NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810
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 chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21945903 RGD:6892917 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:22068168 RGD:6902902 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27580383 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il17a interleukin 17A IEP mRNA:increased expression:ileum RGD PMID:18536735 RGD:4837793 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:10647630 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Serpina1 serpin family A member 1 treatment ISO RGD PMID:23835442 RGD:14695050 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:18266231 RGD:2312714 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO
IMP
RGD PMID:17255219 PMID:18266231 RGD:7241089, RGD:2312714 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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 chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21287673 RGD:5147769 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:duodenal mucosa RGD PMID:27468194 RGD:25671466 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:11321389 RGD:7394742 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      gastrointestinal system disease 7094
        gastroenteritis 565
          inflammatory bowel disease 481
            Crohn's disease 124
              Crohn's colitis 0
              Pediatric Crohn's Disease 4
              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 18969
    disease of anatomical entity 18248
      Immune & Inflammatory Diseases 5574
        Inflammation 2768
          gastroenteritis 565
            inflammatory bowel disease 481
              Crohn's disease 124
                Crohn's colitis 0
                Pediatric Crohn's Disease 4
                gastroduodenal Crohn's disease 0
                ileitis + 9
                ileocolitis 0
                jejunoileitis 0
                perianal Crohn's disease 0
paths to the root