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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Gastrointestinal inflammation
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Accession:HP:0004386 term browser browse the term
Definition:Inflammation of the alimentary part of the gastrointestinal system.
Synonyms:exact_synonym: GI inflammation
 xref: UMLS:C1535950


show annotations for term's descendants           Sort by:
Gastrointestinal inflammation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G IL12A interleukin 12A IAGP HPO NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP HPO NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP HPO NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630 		JBrowse link
G SPIB Spi-B transcription factor IAGP HPO NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314 		JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP HPO NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039 		JBrowse link
G TNPO3 transportin 3 IAGP HPO NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173 		JBrowse link
Chronic colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP ClinVar Annotator: match by term: Chronic colitis ClinVar PMID:25741868 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
Colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACH2 BTB domain and CNC homolog 2 IAGP HPO NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP HPO NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CASP10 caspase 10 IAGP HPO NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Colitis ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP ClinVar Annotator: match by term: Colitis HPO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP HPO NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 IAGP HPO NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Colitis ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP HPO NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP HPO NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP HPO NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G IVNS1ABP influenza virus NS1A binding protein IAGP HPO NCBI chr 1:185,296,388...185,317,243
Ensembl chr 1:185,296,388...185,317,273 		JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP HPO NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G PRF1 perforin 1 IAGP HPO NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		JBrowse link
G RFX5 regulatory factor X5 IAGP HPO NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869 		JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G STX11 syntaxin 11 IAGP HPO NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G SYK spleen associated tyrosine kinase IAGP ClinVar Annotator: match by term: Colitis ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:33782605 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G UNC13D unc-13 homolog D IAGP HPO NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
Colonic eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G CARD11 caspase recruitment domain family member 11 IAGP HPO NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228 		JBrowse link
G JAK1 Janus kinase 1 IAGP HPO NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
Crohn's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACH2 BTB domain and CNC homolog 2 IAGP HPO NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G CARD10 caspase recruitment domain family member 10 IAGP HPO NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G CYLD-AS1 CYLD antisense RNA 1 IAGP ClinVar Annotator: match by term: Crohn's disease ClinVar PMID:11385576 PMID:11385577 PMID:11425413 PMID:11910337 PMID:12019468 More... NCBI chr16:50,727,415...50,742,747 JBrowse link
G FMNL2 formin like 2 IAGP ClinVar Annotator: match by term: Crohn's disease ClinVar NCBI chr 2:152,335,174...152,649,826
Ensembl chr 2:152,335,174...152,649,826 		JBrowse link
G FNIP1 folliculin interacting protein 1 IAGP HPO NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017 		JBrowse link
G GUCY2C guanylate cyclase 2C IAGP HPO NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP HPO NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G IL21 interleukin 21 IAGP HPO NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G IL6 interleukin 6 IAGP HPO NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INAVA innate immunity activator IAGP HPO NCBI chr 1:200,891,531...200,915,742
Ensembl chr 1:200,891,048...200,915,742 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP ClinVar Annotator: match by term: Crohn's disease
ClinVar Annotator: match by term: Morbus Crohn		 HPO
ClinVar		 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 More... NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility IAGP associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) RGD PMID:26084578 RGD:25671421 NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G SYK spleen associated tyrosine kinase IAGP HPO NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELANE elastase, neutrophil expressed IAGP HPO NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP HPO NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G IL10RB interleukin 10 receptor subunit beta IAGP HPO NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP HPO NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing IAGP HPO NCBI chr 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP HPO NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP HPO NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,779,279...81,962,685 		JBrowse link
G RET ret proto-oncogene IAGP HPO NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
Eosinophilic infiltration of the esophagus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK8 dedicator of cytokinesis 8 IAGP HPO NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
Esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP HPO NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G CARD8 caspase recruitment domain family member 8 IAGP HPO NCBI chr19:48,179,825...48,255,946
Ensembl chr19:48,180,770...48,255,946 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP HPO NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G GLRA1 glycine receptor alpha 1 IAGP HPO NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851 		JBrowse link
G GLRB glycine receptor beta IAGP HPO NCBI chr 4:157,076,150...157,172,090
Ensembl chr 4:157,076,125...157,172,090 		JBrowse link
G GPHN gephyrin IAGP HPO NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G GRB10 growth factor receptor bound protein 10 IAGP HPO NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462 		JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 IAGP HPO NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MEN1 menin 1 IAGP HPO NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PSPH phosphoserine phosphatase IAGP HPO NCBI chr 7:56,011,064...56,051,444
Ensembl chr 7:56,011,051...56,051,604 		JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP HPO NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC6A5 solute carrier family 6 member 5 IAGP HPO NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
Focal active colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK2 dedicator of cytokinesis 2 IAGP HPO NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382 		JBrowse link
Inflammation of the large intestine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 IAGP HPO NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G APOA4 apolipoprotein A4 severity IAGP DNA:missense mutation:cds:p.Q360H RGD PMID:17206692 RGD:5685660 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G C1orf116 chromosome 1 open reading frame 116 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,018,522...207,032,756
Ensembl chr 1:207,018,522...207,032,756 		JBrowse link
G C4BPA complement component 4 binding protein alpha IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,104,233...207,144,972
Ensembl chr 1:207,104,233...207,144,972 		JBrowse link
G C4BPB complement component 4 binding protein beta IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,088,860...207,099,993
Ensembl chr 1:207,088,860...207,099,993 		JBrowse link
G CD34 CD34 molecule IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,880,972...207,911,125
Ensembl chr 1:207,880,972...207,911,402 		JBrowse link
G CD46 CD46 molecule IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Inflammation of the large intestine ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP ClinVar Annotator: match by term: Inflammation of the large intestine ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665 		JBrowse link
G CR1 complement C3b/C4b receptor 1 (Knops blood group) IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,496,157...207,641,765
Ensembl chr 1:207,496,147...207,641,765 		JBrowse link
G CR1L complement C3b/C4b receptor 1 like IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,645,133...207,723,703
Ensembl chr 1:207,645,113...207,738,416 		JBrowse link
G CR2 complement C3d receptor 2 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP HPO NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP HPO NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716 		JBrowse link
G F13A1 coagulation factor XIII A chain IAGP HPO NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
G F13B coagulation factor XIII B chain IAGP HPO NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260 		JBrowse link
G FCAMR Fc alpha and mu receptor IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:206,957,967...206,970,638
Ensembl chr 1:206,957,965...206,970,625 		JBrowse link
G FCMR Fc mu receptor IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:206,903,317...206,923,196
Ensembl chr 1:206,903,317...206,923,247 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Inflammation of the large intestine ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP HPO NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963 		JBrowse link
G IFNAR2-IL10RB IFNAR2-IL10RB readthrough IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar NCBI chr21:33,229,938...33,297,221 JBrowse link
G IL10 interleukin 10 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:9536098 PMID:11121048 PMID:14657422 PMID:14657427 PMID:17576681 More... NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G IL10RB interleukin 10 receptor subunit beta IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420 		JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:9536098 PMID:11121048 PMID:14657422 PMID:14657427 PMID:17576681 More... NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 RGD PMID:8119534 RGD:6909136 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL20 interleukin 20 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:206,863,565...206,869,223
Ensembl chr 1:206,865,623...206,869,223 		JBrowse link
G IL21 interleukin 21 IAGP HPO NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G IL24 interleukin 24 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:206,897,443...206,904,139
Ensembl chr 1:206,897,443...206,904,139 		JBrowse link
G IL37 interleukin 37 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:33674380 NCBI chr 2:112,911,165...112,918,882
Ensembl chr 2:112,911,165...112,918,882 		JBrowse link
G IL6 interleukin 6 IAGP HPO NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IRGM immunity related GTPase M IAGP HPO NCBI chr 5:150,846,521...150,902,402
Ensembl chr 5:150,846,521...150,900,736 		JBrowse link
G KRT8 keratin 8 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:15090596 PMID:25741868 NCBI chr12:52,897,191...52,949,860
Ensembl chr12:52,897,187...52,949,954 		JBrowse link
G LOC128462409 CRISPRi-FlowFISH-validated IL10 regulatory element GRCh37_chr1:206945468-206946089 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,772,123...206,772,744 JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MIR29B2CHG MIR29B2 and MIR29C host gene IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,801,518...207,822,703
Ensembl chr 1:207,801,518...207,879,115 		JBrowse link
G MIR29C microRNA 29c IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,801,852...207,801,939
Ensembl chr 1:207,801,852...207,801,939 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,034,416...207,081,027
Ensembl chr 1:207,034,366...207,081,024 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGR polymeric immunoglobulin receptor IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:206,928,522...206,946,466
Ensembl chr 1:206,928,522...206,946,466 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PLXNA2 plexin A2 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:208,022,242...208,244,384
Ensembl chr 1:208,022,242...208,244,384 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP HPO NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187 		JBrowse link
G RNF43 ring finger protein 43 exacerbates IAGP associated with Colitis-Associated Neoplasms;DNA:mutations:multiple: RGD PMID:29416670 RGD:151361225 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP HPO NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
G YOD1 YOD1 deubiquitinase IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:28492532 NCBI chr 1:207,043,849...207,053,116
Ensembl chr 1:207,043,849...207,052,980 		JBrowse link
Intestinal inflammation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNASE2 deoxyribonuclease 2, lysosomal IAGP HPO NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
Necrotizing enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G FCN3 ficolin 3 IAGP HPO NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
Pancolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD8 caspase recruitment domain family member 8 IAGP HPO NCBI chr19:48,179,825...48,255,946
Ensembl chr19:48,180,770...48,255,946 		JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP HPO NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086 		JBrowse link
G IL10RB interleukin 10 receptor subunit beta IAGP HPO NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
Ulcerative colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACH2 BTB domain and CNC homolog 2 IAGP HPO NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G CARD11 caspase recruitment domain family member 11 IAGP HPO NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNPs:multiple RGD PMID:28811712 RGD:151665177 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G IL37 interleukin 37 IAGP HPO NCBI chr 2:112,911,165...112,918,882
Ensembl chr 2:112,911,165...112,918,882 		JBrowse link
G IL6 interleukin 6 IAGP HPO NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INAVA innate immunity activator IAGP HPO NCBI chr 1:200,891,531...200,915,742
Ensembl chr 1:200,891,048...200,915,742 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MASP2 MBL associated serine protease 2 IAGP HPO NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP HPO NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,779,279...81,962,685 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 16464
    Phenotypic abnormality 16462
      Abnormality of the digestive system 4471
        Abnormality of the gastrointestinal tract 3294
          Functional abnormality of the gastrointestinal tract 1240
            Gastrointestinal inflammation 164
              Crohn's disease 18
              Esophagitis + 34
              Inflammation of the large intestine + 115
              Intestinal inflammation 1
Path 2
Term Annotations click to browse term
  Human phenotype 16464
    Phenotypic abnormality 16462
      Abnormality of the immune system 2576
        Abnormality of immune system physiology 2167
          Abnormal inflammatory response 1282
            Increased inflammatory response 1255
              Gastrointestinal inflammation 164
                Crohn's disease 18
                Esophagitis + 34
                Inflammation of the large intestine + 115
                Intestinal inflammation 1
paths to the root