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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:Inflammation of the large intestine
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Accession:HP:0002037 term browser browse the term
Definition:Inflammation, or an inflammatory state in the large intestine.
Synonyms:related_synonym: Inflammatory bowel disease
 xref: EFO:0003767;   SNOMEDCT_US:24526004;   SNOMEDCT_US:302168000;   UMLS:C0021390;   UMLS:C0578878


show annotations for term's descendants           Sort by:
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 MIM:612244 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ALPI alkaline phosphatase, intestinal IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:25741868 NCBI chr 2:232,456,153...232,460,753
Ensembl chr 2:232,456,125...232,460,753 		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 ARL6 ARF like GTPase 6 IAGP HPO ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO PMID:28368018 MIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		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 CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO PMID:24998929 PMID:31980904 MIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		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 PMID:26260076 MIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		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 CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP HPO PMID:35007328 MIM:620133 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 PMID:34326534 MIM:301074 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 ORPHA:331 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 ORPHA:331 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 ORPHA:2908 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 FXN frataxin IAGP HPO ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO MIM:106300 ORPHA:29207 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 MIM:181000 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 MIM:203300 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 PMID:25741868 NCBI chr21:33,229,938...33,297,221
Ensembl chr21:33,229,892...33,297,160 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:98813 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		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 PMID:25741868 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 PMID:24746753 MIM:615767 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 MIM:266600 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 MIM:612278 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 LOC129932369 ATAC-STARR-seq lymphoblastoid active region 2419 IAGP ClinVar Annotator: match by term: Inflammatory bowel disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,770,934...206,771,123 JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO PMID:22608502 MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:3243 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 1:207,760,650...207,879,121 		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 MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO PMID:10498624 MIM:233710 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP HPO ORPHA:98813 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO MIM:266600 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		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 PMID:34415310 MIM:619708 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 PMID:30336224 MIM:619281 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 PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO PMID:23104095 MIM:615895 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP HPO PMID:30026316 MIM:618108 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 SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO PMID:9686363 PMID:32838757 MIM:232220 MIM:232240 ORPHA:79259 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 PMID:26358773 MIM:616868 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 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 MIM:300635 ORPHA:538934 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
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 PMID:28530713 MIM:618394 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 PMID:25365219 MIM:616098 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 PMID:29479355 MIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 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 ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:209920 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 PMID:34326534 MIM:301074 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 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 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 PMID:30822429 MIM:619164 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 ORPHA:2908 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 ORPHA:37042 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 MIM:615947 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 MIM:203300 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 PMID:22476154 MIM:613148 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 PMID:32499645 MIM:618969 NCBI chr 1:185,296,388...185,317,243
Ensembl chr 1:185,292,931...185,317,273 		JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO PMID:22608502 MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO PMID:36932076 MIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO PMID:19692703 MIM:613960 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 PMID:30336224 MIM:619281 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 PMID:31554793 MIM:619802 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 PMID:27019227 MIM:301220 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 ORPHA:540 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PSMB10 proteasome 20S subunit beta 10 IAGP HPO PMID:38503300 MIM:620807 NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO PMID:25845478 MIM:604416 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO MIM:615190 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SHARPIN SHANK associated RH domain interactor IAGP HPO PMID:38609546 MIM:620795 NCBI chr 8:144,098,637...144,103,773
Ensembl chr 8:144,098,633...144,108,124 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO PMID:18982349 PMID:22444670 MIM:614602 ORPHA:84064 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 ORPHA:84064 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 ORPHA:540 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 PMID:29776323 MIM:613101 ORPHA:540 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 MIM:619381 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 PMID:26642243 MIM:616744 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 ORPHA:540 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 MIM:300635 ORPHA:538934 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 PMID:26783323 MIM:617006 ORPHA:911 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,744,327 		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 PMID:28368018 MIM:617718 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 PMID:28628108 MIM:617638 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 PMID:32750333 MIM:618999 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:388 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:388 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO PMID:32554502 MIM:301108 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G ECE1 endothelin converting enzyme 1 IAGP HPO ORPHA:388 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
G EDN3 endothelin 3 IAGP HPO ORPHA:388 NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992 		JBrowse link
G EDNRB endothelin receptor type B IAGP HPO ORPHA:388 NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO ORPHA:388 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO ORPHA:388 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP HPO ORPHA:388 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP HPO PMID:19890111 MIM:613148 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 PMID:19890111 MIM:612567 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 PMID:25217960 MIM:616050 NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO PMID:32554502 MIM:620425 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NRTN neurturin IAGP HPO ORPHA:388 NCBI chr19:5,805,067...5,828,324
Ensembl chr19:5,805,067...5,828,324 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing IAGP HPO MIM:260005 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 PMID:31554793 MIM:619802 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 PMID:23000145 MIM:614878 NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685 		JBrowse link
G RET ret proto-oncogene IAGP HPO MIM:142623 ORPHA:388 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SEMA3C semaphorin 3C IAGP HPO ORPHA:388 NCBI chr 7:80,742,538...80,922,389
Ensembl chr 7:80,742,538...80,922,359 		JBrowse link
G SEMA3D semaphorin 3D IAGP HPO ORPHA:388 NCBI chr 7:84,995,553...85,250,243
Ensembl chr 7:84,995,553...85,187,056 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:388 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO ORPHA:388 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO PMID:23830146 MIM:243150 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		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 PMID:26083206 MIM:616433 NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382 		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 PMID:4022672 MIM:201475 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 PMID:31308374 MIM:619573 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 PMID:20971976 MIM:613860 NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824 		JBrowse link
G FH fumarate hydratase IAGP HPO PMID:22069215 MIM:606812 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO PMID:31389005 MIM:619350 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO PMID:26293662 MIM:616809 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 PMID:29408806 MIM:619079 NCBI chr19:48,203,148...48,255,946
Ensembl chr19:48,180,770...48,255,946 		JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP HPO PMID:35007328 MIM:620133 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 PMID:21519361 MIM:612567 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 PMID:29483653 MIM:618213 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 PMID:28530713 MIM:618394 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 PMID:28628108 MIM:617638 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 PMID:30361506 MIM:618935 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 DOCK11 dedicator of cytokinesis 11 IAGP HPO PMID:36952639 PMID:37342957 MIM:301109 NCBI chr  X:118,495,815...118,686,147
Ensembl chr  X:118,495,815...118,686,163 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 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 PMID:33674380 MIM:619398 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 MIM:266600 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 PMID:21983784 MIM:618077 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 MIM:617137 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 PMID:12904520 MIM:613791 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 ORPHA:171 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 MIM:266600 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 PMID:23000145 MIM:614878 NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 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 ORPHA:79259 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 ORPHA:171 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 PMID:17703096 MIM:301000 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 98856
    Phenotypic abnormality 98459
      Abnormality of the digestive system 14956
        Abnormality of the gastrointestinal tract 9052
          Functional abnormality of the gastrointestinal tract 5603
            Gastrointestinal inflammation 3719
              Inflammation of the large intestine 2546
                Colitis + 1130
                Colonic eosinophilia 3
Path 2
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the digestive system 14956
        Abnormality of the gastrointestinal tract 9052
          Abnormal gastrointestinal tract morphology 5431
            Abnormal intestine morphology 4575
              Abnormal large intestine morphology 3916
                Inflammation of the large intestine 2546
                  Colitis + 1130
                  Colonic eosinophilia 3
paths to the root