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
Accession: DOID:8778
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 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: MIM:266600
xref: EFO:0000384 ; EFO:0005625 ; GARD:10232 ; NCI:C2965
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcb1a
ATP binding cassette subfamily B member 1A
susceptibility
ISO
RGD
PMID:15505619
RGD:1598568
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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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 chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
protein:increased expression:large intestine epithelium
RGD
PMID:7679252
RGD:5509621
NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542
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Alpi
alkaline phosphatase, intestinal
ISO
protein:decreased expression:colonic mucosa
RGD
PMID:22783049
RGD:14367879
NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:87,773,411...87,776,877
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Apln
apelin
ISO
protein:increased expression:intestine
RGD
PMID:17391779
RGD:1626177
NCBI chr X:132,058,739...132,091,518
Ensembl chr X:127,203,823...127,213,391
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Apoa4
apolipoprotein A4
severity
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:17206692
RGD:5685660
NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469
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Aqp7
aquaporin 7
severity
ISO
mRNA, protein:decreased expression:colon
RGD
PMID:15338270
RGD:1626292
NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:56,172,519...56,186,642
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Atg16l1
autophagy related 16-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17435756 PMID:18438406
NCBI chr 9:95,869,839...95,905,354
Ensembl chr 9:88,422,038...88,457,529
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Atg4c
autophagy related 4C, cysteine peptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36038634
NCBI chr 5:118,977,594...119,050,894
Ensembl chr 5:113,867,092...113,934,830
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Bach2
BTB domain and CNC homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21102463
NCBI chr 5:51,428,802...51,779,030
Ensembl chr 5:46,638,317...46,977,877
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Bglap
bone gamma-carboxyglutamate protein
ISO
mRNA:decreased expression:bone protein:undercarboxylated:serum
RGD
PMID:22535626 PMID:21482072
RGD:6483321 , RGD:6483546
NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495
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Bpi
bactericidal/permeability-increasing protein
ISO
RGD
PMID:15758620
RGD:1580079
NCBI chr 3:167,329,513...167,356,217
Ensembl chr 3:146,909,629...146,936,221
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21829567
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Ccny
cyclin Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18438405
NCBI chr17:62,079,925...62,207,780
Ensembl chr17:57,384,176...57,522,378
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Ccr7
C-C motif chemokine receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36038634
NCBI chr10:84,594,399...84,604,514
Ensembl chr10:84,097,381...84,108,309
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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 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
mRNA:increased expression:colon:
RGD
PMID:27051591
RGD:151667910
NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:116,714,711...116,837,240
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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
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Cldn1
claudin 1
ISO
RGD
PMID:21748286
RGD:11341809
NCBI chr11:87,926,376...87,941,533
Ensembl chr11:74,421,569...74,436,724
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Col6a3
collagen type VI alpha 3 chain
ISO
protein:increased expression:serum (human)
RGD
PMID:32245981
RGD:401900121
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471
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Crp
C-reactive protein
severity
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11339241 PMID:22421709
RGD:6482309
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
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Dennd1b
DENN domain containing 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21102463
NCBI chr13:53,096,717...53,324,372
Ensembl chr13:50,545,836...50,770,601
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21102463
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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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
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Duox2
dual oxidase 2
ISO
mRNA:increased expression:colon (human)
RGD
PMID:19759286
RGD:40924645
NCBI chr 3:129,680,543...129,698,886
Ensembl chr 3:109,226,924...109,245,902
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Efs
embryonal Fyn-associated substrate
ISS
MouseDO
NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Inflammatory bowel disease 1
ClinVar
PMID:9238033 PMID:18510924 PMID:18510925 PMID:22826098 PMID:23800062 PMID:24418926 PMID:25431422 PMID:25741868 PMID:28492532 PMID:29169765 PMID:32047639 More...
NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102
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Esr2
estrogen receptor 2
disease_progression
ISO
mRNA:decreased expression:colon
RGD
PMID:21252046
RGD:5508810
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
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F13a1
coagulation factor XIII A1 chain
ISO
associated with Fistula;protein:decreased activity:plasma:
RGD
PMID:7611208
RGD:10450739
NCBI chr17:28,021,197...28,197,960
Ensembl chr17:27,815,702...27,992,700
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F2
coagulation factor II, thrombin
ISO
RGD
PMID:21593018
RGD:5147754
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
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Fcgr2a
Fc gamma receptor 2A
susceptibility
ISO
DNA:polymorphism: :p.A519G (human)
RGD
PMID:20848524
RGD:5147918
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
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Fcgr3a
Fc gamma receptor 3A
treatment
ISO
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:14987319
RGD:1304543
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
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Fga
fibrinogen alpha chain
ISO
RGD
PMID:19683480
RGD:5688758
NCBI chr 2:170,672,169...170,679,572
Ensembl chr 2:168,374,120...168,381,528
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Fgf7
fibroblast growth factor 7
ISO
mRNA:increased expression:colon, ileum, myofibroblasts (human)
RGD
PMID:9358773
RGD:126928145
NCBI chr 3:133,734,557...133,786,678
Ensembl chr 3:113,281,283...113,332,929
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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
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Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19751734
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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Fpr2
formyl peptide receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21659618
NCBI chr 1:67,449,637...67,458,272
Ensembl chr 1:58,776,752...58,786,019
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Fut2
fucosyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21102463
NCBI chr 1:105,256,013...105,276,828
Ensembl chr 1:96,119,371...96,140,360
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Gc
GC, vitamin D binding protein
susceptibility
ISO
DNA:polymorphism:cds:p.T420K(human)
RGD
PMID:21832969
RGD:5509866
NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567
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Gpbar1
G protein-coupled bile acid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23566200
NCBI chr 9:83,309,895...83,312,397
Ensembl chr 9:75,860,677...75,863,168
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Gpx1
glutathione peroxidase 1
ISO
protein:decreased expression:erythrocyte
RGD
PMID:20186929
RGD:11352754
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:26604430
RGD:11538341
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:17565649
RGD:5490554
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Hfe
homeostatic iron regulator
treatment
ISO
DNA:SNP: :rs2071303 (human)
RGD
PMID:27115882
RGD:14701051
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502
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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
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Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
ClinVar Annotator: match by term: Inflammatory bowel disease 1
ClinVar
PMID:28126021
NCBI chr20:3,853,496...3,860,223
Ensembl chr20:3,848,843...3,855,571
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:15638228
RGD:1625756
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21829567 PMID:28070144
RGD:14974261
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19751734
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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Il10
interleukin 10
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21102463 PMID:11113068 PMID:29899181
RGD:11049181 , RGD:14975133
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Il10ra
interleukin 10 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36038634
NCBI chr 8:54,459,754...54,474,786
Ensembl chr 8:45,563,137...45,578,061
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Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18438406
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903
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Il21r
interleukin 21 receptor
ISO
DNA:altered methylation: :
RGD
PMID:22021194
RGD:6482789
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522
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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 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021
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Il2ra
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21102463
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:10700533 PMID:21829567
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Irgm
immunity-related GTPase M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17554261 PMID:18438406 PMID:19165925 PMID:21278745
NCBI chr10:33,734,640...33,742,720
Ensembl chr10:33,233,455...33,241,578
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Jak2
Janus kinase 2
ISO
DNA:SNP: :rs10758669 (human)
RGD
PMID:22269120
RGD:6483020
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:colon
RGD
PMID:19013462
RGD:5684406
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21829567
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
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Lrrk2
leucine-rich repeat kinase 2
ISO
DNA:point mutation: :p.T2397M (rs3761863) (human)
RGD
PMID:21983832
RGD:5508401
NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:122,826,696...122,987,703
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Madcam1
mucosal vascular addressin cell adhesion molecule 1
IMP
RGD
PMID:11703369
RGD:2311550
NCBI chr 7:10,686,920...10,690,322
Ensembl chr 7:10,036,301...10,039,703
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphisms:cds:
RGD
PMID:21702710
RGD:12910842
NCBI chr 1:237,429,873...237,465,567
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Mir155
microRNA 155
ISO
miRNA:decreased expression:feces
RGD
PMID:30927737 PMID:29668922 PMID:29325325
RGD:21079443 , RGD:24922213 , RGD:24922207
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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Mir21
microRNA 21
ISO
RNA:increased expression:leukocyte
RGD
PMID:25144570
RGD:41404530
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21364546
RGD:6483536
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
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Mst1
macrophage stimulating 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18438406
NCBI chr 8:117,646,485...117,652,016
Ensembl chr 8:108,768,839...108,773,416
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28002332
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Myo5b
myosin Vb
ISO
ClinVar Annotator: match by term: Inflammatory bowel disease 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
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Ncf4
neutrophil cytosolic factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17435756
NCBI chr 7:111,705,926...111,723,893
Ensembl chr 7:109,826,020...109,843,389
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Nkx2-3
NK2 homeobox 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17554261 PMID:18438405 PMID:18438406
NCBI chr 1:252,427,356...252,430,309
Ensembl chr 1:242,478,130...242,481,083
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19098911
NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811
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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 PMID:11910337 PMID:12019468 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12630966 PMID:12650796 PMID:12673278 PMID:12704363 PMID:14508222 PMID:14765395 PMID:15002819 PMID:15024686 PMID:15044951 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15459013 PMID:15571588 PMID:15712650 PMID:15770725 PMID:15967635 PMID:16010583 PMID:16199547 PMID:16278823 PMID:16416181 PMID:16485124 PMID:16669960 PMID:16804397 PMID:17301648 PMID:17435756 PMID:17489054 PMID:17568627 PMID:18056399 PMID:18240302 PMID:18371140 PMID:18419343 PMID:18438406 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18942754 PMID:19103559 PMID:19184348 PMID:19184350 PMID:19185283 PMID:19349988 PMID:19397946 PMID:19467619 PMID:19641059 PMID:19713276 PMID:19748964 PMID:20032092 PMID:20047977 PMID:20230816 PMID:20332463 PMID:20713205 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21460759 PMID:21548950 PMID:21565239 PMID:21745302 PMID:21830272 PMID:21914217 PMID:21951874 PMID:21983784 PMID:21994160 PMID:22275320 PMID:22319155 PMID:22344438 PMID:22377804 PMID:22440928 PMID:22543157 PMID:22684479 PMID:22926499 PMID:22939045 PMID:22942351 PMID:23102769 PMID:23128233 PMID:23173613 PMID:23334666 PMID:23615072 PMID:23633568 PMID:23709157 PMID:24033266 PMID:24047397 PMID:24345423 PMID:24391456 PMID:24583628 PMID:24586700 PMID:24597572 PMID:24803813 PMID:25365249 PMID:25416713 PMID:25741868 PMID:26042516 PMID:26070941 PMID:26164256 PMID:26167078 PMID:26316104 PMID:26500656 PMID:26768519 PMID:27306066 PMID:27373512 PMID:27419275 PMID:28008999 PMID:28422189 PMID:28492532 PMID:28658209 PMID:28750667 PMID:28814775 PMID:29178652 PMID:29248579 PMID:29321258 PMID:29446656 PMID:29795570 PMID:29867916 PMID:30166421 PMID:30167848 PMID:30552907 PMID:30553995 PMID:31681265 PMID:32463623 PMID:32597225 PMID:32716958 PMID:33394828 PMID:37156999 PMID:11385576 PMID:21155887 PMID:21983784 More...
RGD:1600778 , RGD:5508730 , RGD:5508719
NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21829567
NCBI chr 7:25,733,471...25,829,440
Ensembl chr 7:23,846,122...23,942,047
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Ocln
occludin
ISO
RGD
PMID:21748286
RGD:11341809
NCBI chr 2:33,391,303...33,442,207
Ensembl chr 2:31,657,220...31,764,150
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Pbrm1
polybromo 1
ISO
mRNA:decreased expression:colon
RGD
PMID:28940253
RGD:150340627
NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,213,300...6,311,780
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Pdlim5
PDZ and LIM domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36038634
NCBI chr 2:233,625,478...233,793,582
Ensembl chr 2:230,952,248...231,120,275
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Pgf
placental growth factor
ISO
protein:increased expression:serum
RGD
PMID:17980128
RGD:6483592
NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685
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Phox2b
paired-like homeobox 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17435756
NCBI chr14:41,420,011...41,424,527
Ensembl chr14:41,066,264...41,068,978
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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
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Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:21114432
RGD:6483800
NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:80,050,324...80,068,595
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Pon1
paraoxonase 1
ISO
mRNA:decreased expression:terminal ileum (human)
RGD
PMID:17664137
RGD:5509924
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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Pon3
paraoxonase 3
ISO
mRNA:decreased expression:terminal ileum (human)
RGD
PMID:17664137
RGD:5509924
NCBI chr 4:34,323,546...34,350,244
Ensembl chr 4:33,349,168...33,383,855
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21829567
NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21829567
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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Prf1
perforin 1
ISO
DNA:hypermethylation
RGD
PMID:22021194
RGD:6482789
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,246,202...29,251,701
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Prkcq
protein kinase C, theta
ISO
ClinVar Annotator: match by term: Inflammatory bowel disease 1
ClinVar
PMID:25741868
NCBI chr17:72,156,215...72,288,508
Ensembl chr17:67,246,394...67,378,704
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Ptafr
platelet-activating factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36038634
NCBI chr 5:150,049,322...150,079,060
Ensembl chr 5:144,765,976...144,795,251
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
protein:increased expression:colon
RGD
PMID:21763290
RGD:5508200
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Ptpn2
protein tyrosine phosphatase, non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17554261
NCBI chr18:63,498,890...63,564,571
Ensembl chr18:61,229,014...61,294,627
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA:SNP:cds:rs2476601 (human)
RGD
PMID:18587394
RGD:6484668
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36038634
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484
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RT1-Bb
RT1 class II, locus Bb
ISO
RGD
PMID:29358886
RGD:14974239
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25559196
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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RT1-Ha
RT1 class II, locus Ha
ISO
RGD
PMID:12073072
RGD:6480648
NCBI chr20:4,762,425...4,772,439
Ensembl chr20:4,760,118...4,770,244
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Sdf2l1
stromal cell-derived factor 2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36038634
NCBI chr11:97,376,878...97,379,120
Ensembl chr11:83,872,659...83,874,902
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Sell
selectin L
ISO
DNA:polymorphism: :p.F206L (human)
RGD
PMID:19212205
RGD:13464267
NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456
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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 PMID:17131479 PMID:17385031 PMID:18340647 More...
RGD:5684938 , RGD:5684968 , RGD:5684956 , RGD:5684952 , RGD:5684942 , RGD:5684941 , RGD:5684939
NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101
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Slc22a5
solute carrier family 22 member 5
susceptibility
ISO
DNA:snp, haplotype:promoter:g.-207G>C (human)
RGD
PMID:15107849
RGD:1580609
NCBI chr10:38,509,072...38,536,240
Ensembl chr10:38,008,311...38,035,309
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Slc39a8
solute carrier family 39 member 8
ISO
ClinVar Annotator: match by term: Inflammatory bowel disease 1
ClinVar
PMID:25741868 PMID:27492617 PMID:28492532 PMID:32897876 PMID:33139556
NCBI chr 2:226,845,686...226,992,668
Ensembl chr 2:224,256,654...224,319,129
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21102463
NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960
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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 chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Tagap
T-cell activation RhoGTPase activating protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21102463 PMID:36038634
NCBI chr 1:49,575,750...49,584,747
Ensembl chr 1:47,170,725...47,179,792
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Tcf7
transcription factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24994854
NCBI chr10:36,924,363...36,954,279
Ensembl chr10:36,423,445...36,453,535
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Thbd
thrombomodulin
ISO
protein:decreased expression:colon, blood vessel
RGD
PMID:17557119
RGD:5685011
NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17914947
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15236225 PMID:17914947
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796
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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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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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 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
IEP
protein:increased expression:large intestine mucosa (rat)
RGD
PMID:21359923
RGD:5130893
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
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Tnfsf15
TNF superfamily member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37156999
NCBI chr 5:82,150,376...82,171,743
Ensembl chr 5:77,139,878...77,156,228
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21102463
NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:19,641,884...19,667,044
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
DNA:polymorphism:promoter
RGD
PMID:22398043
RGD:6482850
NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:plasma, large intestine mucosa
RGD
PMID:19013462
RGD:5684406
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Vipr1
vasoactive intestinal peptide receptor 1
ISO
RGD
PMID:17611633
RGD:5685618
NCBI chr 8:130,181,219...130,217,098
Ensembl chr 8:121,310,248...121,339,585
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Vtn
vitronectin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19751734
NCBI chr10:63,892,782...63,895,862
Ensembl chr10:63,394,719...63,397,810
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22848538
RGD:8661712
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:21945903
RGD:6892917
NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990
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Cd80
Cd80 molecule
ISO
RGD
PMID:22068168
RGD:6902902
NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27580383
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Il17a
interleukin 17A
IEP
mRNA:increased expression:ileum
RGD
PMID:18536735
RGD:4837793
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10647630
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
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Serpina1
serpin family A member 1
treatment
ISO
RGD
PMID:23835442
RGD:14695050
NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339
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Tlr2
toll-like receptor 2
IMP
RGD
PMID:18266231
RGD:2312714
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO IMP
RGD
PMID:17255219 PMID:18266231
RGD:7241089 , RGD:2312714
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
ISO
mRNA:increased expression:duodenum:non-inflamed tissue
RGD
PMID:16917230
RGD:5685614
NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422
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F2
coagulation factor II, thrombin
ISO
RGD
PMID:21287673
RGD:5147769
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
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Mir155
microRNA 155
ISO
miRNA:increased expression:duodenal mucosa
RGD
PMID:27468194
RGD:25671466
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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Tnf
tumor necrosis factor
ISO
RGD
PMID:11321389
RGD:7394742
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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