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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autoimmune disease of gastrointestinal tract
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Accession:DOID:0060031 term browser browse the term
Definition:An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. (DO)
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
autoimmune gastritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP4B ATPase H+/K+ transporting subunit beta ISO RGD PMID:7517707 PMID:8393475 RGD:14696740 RGD:14696746 NCBI chr11:78,780,013...78,785,143
Ensembl chr11:78,780,013...78,785,116
JBrowse link
autoimmune hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:19301087 RGD:5686833 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16115720 NCBI chr 1:243,127,870...243,141,504
Ensembl chr 1:243,110,585...243,141,418
JBrowse link
G C1S complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr 5:63,670,309...63,681,466 JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD274 CD274 molecule ISO RGD PMID:19781375 RGD:41412171 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,047...216,792,724
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNPs:exons:49A>G (rs231775), CT60 C > T(rs3087243)(human) RGD PMID:30320190 RGD:14398726 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO protein:increased expression:serum: RGD PMID:3186722 PMID:10435724 RGD:11353781 RGD:7207226 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,643
JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 3:38,590,045...38,646,852
Ensembl chr 3:38,586,600...38,646,834
JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO RGD PMID:20821236 PMID:21711423 RGD:5147750 RGD:5147775 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G FAS Fas cell surface death receptor treatment ISO protein:increased expression:lymphocyte: RGD PMID:26429926 PMID:28551553 RGD:14700710 RGD:14700711 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:28551553 RGD:14700710 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO human gene in a mouse model RGD PMID:9195373 RGD:14694814 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL13 interleukin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL2 interleukin 2 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:21227906 PMID:29233784 PMID:29323192 RGD:14747037 RGD:14747042 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL21 interleukin 21 exacerbates ISO protein:increased expression:blood serum, peripheral blood mononuclear cell (human) RGD PMID:27386263 RGD:127285554 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
G IL22 interleukin 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,301...32,604,736
JBrowse link
G IL4 interleukin 4 treatment
susceptibility
ISO DNA:SNPs:promoter:-590C>T,-33T>C (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
RGD
CTD
PMID:21227906 PMID:26735262 PMID:30034292 RGD:14696677 RGD:14696683 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IL9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 2:138,048,943...138,052,588
Ensembl chr 2:138,048,943...138,052,588
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G MIR155 microRNA mir-155 treatment ISO RGD PMID:29420849 PMID:30290123 RGD:21081535 RGD:21409750 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G PDCD1 programmed cell death 1 ISO RGD PMID:19781375 PMID:23869988 RGD:40818236 RGD:41412171 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,210...140,347,478
JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO RGD PMID:19781375 RGD:41412171 NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,101...216,682,607
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO RGD PMID:20208391 RGD:9999172 NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human) RGD PMID:23990947 PMID:28977835 RGD:25671418 RGD:25671419 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:polymorphism: : RGD PMID:15683428 RGD:14402024 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
celiac disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G ASAH2 N-acylsphingosine amidohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:99,018,111...99,141,374
Ensembl chr14:99,025,005...99,129,100
JBrowse link
G BACH2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 1:57,881,203...58,281,740
Ensembl chr 1:57,899,789...58,204,839
JBrowse link
G CAPN8 calpain 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr10:19,622,274...19,732,106
Ensembl chr10:19,624,172...19,731,989
JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,985
JBrowse link
G CD14 CD14 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: RGD PMID:18728522 RGD:2314152 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,358...142,349,581
JBrowse link
G CD36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,980
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO ClinVar Annotator: match by term: CELIAC DISEASE, SUSCEPTIBILITY TO, 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... RGD:1300387 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:71,713,790...71,725,669
Ensembl chr 8:71,713,800...71,725,674
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,495...71,670,271
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 9:55,377,264...55,512,180
Ensembl chr 9:55,377,264...55,512,115
JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:23556408 RGD:7387257 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G ICOS inducible T cell costimulator susceptibility ISO DNA:SNP,haplotype: :rs10932037(human) RGD PMID:19020530 RGD:11344917 NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,123
JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr13:207,106,202...207,115,886 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26440733 PMID:30097691 RGD:14974259 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL10 interleukin 10 ISO RGD PMID:27545437 RGD:14975156 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL15 interleukin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23269601 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,307...85,740,911
JBrowse link
G IL21 interleukin 21 susceptibility ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:blood serum (human)
CTD
RGD
PMID:17558408 PMID:22077623 RGD:127285362 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
G IL23R interleukin 23 receptor susceptibility ISO DNA:SNP:cds:p.R381Q(rs11209026)(human) RGD PMID:18368064 PMID:19175939 RGD:8549604 RGD:8549631 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,577
JBrowse link
G IL6 interleukin 6 ISO associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) RGD PMID:18692934 RGD:2307292 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:268,609,975...268,614,651 JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:74,412,226...74,428,713
Ensembl chr 8:74,409,459...74,419,682
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,085...33,483,679
JBrowse link
G MYO9B myosin IXB susceptibility ISO ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15822038 PMID:16282976 NCBI chr 2:60,455,605...60,567,479
Ensembl chr 2:60,455,605...60,567,505
JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr17:57,930,507...57,936,523
Ensembl chr17:57,930,432...57,938,896
JBrowse link
G PIWIL2 piwi like RNA-mediated gene silencing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:6,560,402...6,632,524
Ensembl chr14:6,563,668...6,632,528
JBrowse link
G PON1 paraoxonase 1 ISO mRNA:decreased expression:duodenum RGD PMID:17664137 RGD:5509924 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PON3 paraoxonase 3 ISO mRNA:decreased expression:duodenum RGD PMID:17664137 RGD:5509924 NCBI chr 9:74,983,040...75,017,947
Ensembl chr 9:74,991,277...75,017,942
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,215...82,595,026
JBrowse link
G S100A9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 4:96,236,114...96,238,989 JBrowse link
G SLC6A14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr  X:95,482,494...95,507,200
Ensembl chr  X:95,482,451...95,527,340
JBrowse link
G SOAT2 sterol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 5:18,358,941...18,371,262
Ensembl chr 5:18,358,673...18,371,264
JBrowse link
G TFF1 trefoil factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr13:205,687,558...205,691,512 JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:increased expression:duodenum: RGD PMID:15054143 RGD:11062102 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,594...134,000,278
JBrowse link
G TGM2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17190764 NCBI chr17:41,186,765...41,221,686
Ensembl chr17:41,186,766...41,221,637
JBrowse link
G THEMIS thymocyte selection associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 1:35,333,210...35,530,710
Ensembl chr 1:35,333,454...35,519,870
JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 6:68,590,562...68,609,784
Ensembl chr 6:68,394,470...68,609,746
JBrowse link
G UBD ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:22,501,130...22,502,883
Ensembl chr 7:22,501,130...22,503,094
JBrowse link
G UPB1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:49,533,208...49,561,518
Ensembl chr14:49,533,226...49,565,100
JBrowse link
G VNN1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:31,003,338...31,023,731
Ensembl chr 1:31,000,254...31,059,345
JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr14:81,409,067...81,647,808
Ensembl chr14:81,455,127...81,647,949
JBrowse link
North American Indian Childhood Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UTP4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: North american indian childhood cirrhosis ClinVar PMID:12417987 PMID:22916032 PMID:24123366 PMID:25741868 PMID:27535533 More... NCBI chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,162
JBrowse link
primary biliary cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28660384 RGD:21203516 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD
RGD
PMID:18671305 PMID:20040336 PMID:30682444 RGD:14694982 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
CTD
RGD
PMID:15542527 PMID:15770136 RGD:14700810 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,656...111,078,873
JBrowse link
G ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,472...130,998,660
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,099,853...12,151,275
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20451280 RGD:5148030 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:
CTD
RGD
PMID:12126966 PMID:15770052 RGD:14995336 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
JBrowse link
G CD3D CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221
JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,980
JBrowse link
G CDH5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 6:27,108,560...27,142,145
Ensembl chr 6:27,108,609...27,142,180
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CENPB centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr17:31,929,846...31,932,539 JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 3:31,938,133...32,158,343
Ensembl chr 3:31,938,135...32,158,558
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,734
JBrowse link
G CPEB4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr16:50,430,345...50,499,086
Ensembl chr16:50,426,816...50,499,065
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 no_association
susceptibility
disease_progression
ISO DNA:SNP:CDS:49A>G(human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002)
RGD PMID:10782900 PMID:16584111 PMID:17482523 PMID:21594562 RGD:14398725 RGD:14398743 RGD:14398744 RGD:2301998 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:liver (human) RGD PMID:21731723 RGD:26884357 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,495...71,670,271
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 9:46,134,243...46,146,638
Ensembl chr 9:46,127,488...46,146,637
JBrowse link
G CYGB cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr12:4,977,245...4,988,283 JBrowse link
G DAG1 dystroglycan 1 ISO mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
JBrowse link
G DENND1B DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr10:20,391,507...20,635,808
Ensembl chr10:20,395,462...20,636,247
JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 3:38,590,045...38,646,852
Ensembl chr 3:38,586,600...38,646,834
JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15651265 RGD:9685530
G FAS Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735
JBrowse link
G HAMP hepcidin antimicrobial peptide treatment ISO mRNA:decreased expression:liver RGD PMID:19652645 PMID:23704825 RGD:11041639 RGD:11041732 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,159...44,787,307
JBrowse link
G HHIP hedgehog interacting protein ISO mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr 8:83,583,735...83,678,368
Ensembl chr 8:83,583,737...83,679,136
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603
G ICAM1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G ICAM3 intercellular adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:69,143,063...69,150,221
Ensembl chr 2:69,143,075...69,150,263
JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799
JBrowse link
G IL10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL12A interleukin 12A susceptibility
treatment
ISO DNA:SNPs, haplotype: :rs6441286, rs574808(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
DNA:SNP: :rs62270414(human)
RGD
CTD
PMID:19458352 PMID:20639880 PMID:23433321 PMID:27175695 RGD:25440489 RGD:25440498 RGD:25440500 NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,147,247...64,158,952
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 susceptibility ISO RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:20442198 RGD:7829828 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL7R interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585
JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:24619965 RGD:10403061 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,686...217,002,148
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,297,835
JBrowse link
G KRT18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr 5:18,217,686...18,221,432
Ensembl chr 5:18,217,691...18,222,833
JBrowse link
G KRT7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr 5:17,553,192...17,570,582
Ensembl chr 5:17,555,714...17,571,141
JBrowse link
G LBR lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
JBrowse link
G LEP leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LEPR leptin receptor ISO protein:increased expression:blood serum RGD PMID:16093869 RGD:10411894 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,593,116...125,607,594
JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,863...7,540,704
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,104...31,862,038
JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO RGD PMID:17532087 RGD:9685452 NCBI chr 1:7,527,566...7,542,110
Ensembl chr 1:7,526,653...7,528,823
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,432,191...64,472,712
JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,003...33,568,076
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:20056896 RGD:8552731 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr 2:689,363...719,542 JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,637...118,506,691
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21903766 PMID:30026087 RGD:5509055 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO mRNA,protein:decreased expression:liver (human) RGD PMID:29968724 RGD:14928336 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,288...83,684,604
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,937...144,956,095
JBrowse link
G NSA2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:83,843,893...83,851,232
Ensembl chr 2:83,843,898...83,852,212
JBrowse link
G NUP62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 6:54,921,627...54,945,705
Ensembl chr 6:54,921,627...54,923,227
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:17610866 RGD:2314466 NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,947
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:liver RGD NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
JBrowse link
G REN renin ISO protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,636
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr12:36,111,584...36,159,287
Ensembl chr12:36,111,653...36,160,376
JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr18:6,149,459...6,166,622
Ensembl chr18:6,149,458...6,165,212
JBrowse link
G SLC51A solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr13:133,851,775...133,869,753
Ensembl chr13:133,851,776...133,869,753
JBrowse link
G SLC51B solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 1:163,081,145...163,089,491
Ensembl chr 1:163,081,180...163,089,488
JBrowse link
G SLCO1C1 solute carrier organic anion transporter family member 1C1 ISO protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 5:52,234,396...52,315,311
Ensembl chr 5:52,230,398...52,315,026
JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SPIB Spi-B transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 6:55,272,847...55,280,881 JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,561
JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association
susceptibility
ISO DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes:multiple
DNA:SNP: intron: (rs7574865) (human)
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
RGD
CTD
PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 RGD:25671415 RGD:25671416 RGD:25671421 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TLR9 toll like receptor 9 ISO protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chr13:34,353,444...34,370,990 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human)
mRNA:increased expression:liver
RGD PMID:9047083 PMID:17158635 RGD:14995307 RGD:38501106 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G TYK2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr 2:69,157,774...69,183,555
Ensembl chr 2:69,157,799...69,183,461
JBrowse link
G UBD ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 7:22,501,130...22,502,883
Ensembl chr 7:22,501,130...22,503,094
JBrowse link
G UTP4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,162
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP: :
DNA:polymorphism: :
RGD PMID:15683428 PMID:19376604 RGD:14401750 RGD:14402024 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:liver
protein:increased expression:plasma:
RGD PMID:26615570 PMID:26627607 RGD:11528851 RGD:11538286 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO OMIM NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
JBrowse link
ulcerative colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 susceptibility ISO RGD PMID:15505619 RGD:1598568 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACSM3 acyl-CoA synthetase medium chain family member 3 ISO mRNA:decreased expression:colonic mucosa RGD PMID:21987487 RGD:7241281 NCBI chr 3:25,247,723...25,284,063
Ensembl chr 3:25,247,722...25,283,709
JBrowse link
G ADCY7 adenylate cyclase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28067910 NCBI chr 6:34,521,503...34,586,384
Ensembl chr 6:34,519,180...34,585,779
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:16432373 RGD:5686726 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO protein:decreased expression:large intestine mucosa,spleen RGD PMID:22772914 RGD:7175063 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
JBrowse link
G APLN apelin ISO protein:increased expression:intestine RGD PMID:17391779 RGD:1626177 NCBI chr  X:106,236,746...106,246,563
Ensembl chr  X:106,236,748...106,246,378
JBrowse link
G APOA4 apolipoprotein A4 severity ISO DNA:missense mutation:cds:p.Q360H (human) RGD PMID:17206692 RGD:5685660 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
JBrowse link
G AQP7 aquaporin 7 severity ISO mRNA, protein:decreased expression:colon RGD PMID:15338270 RGD:1626292 NCBI chr10:33,098,746...33,130,245 JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18836448 NCBI chr15:120,297,122...120,328,795
Ensembl chr15:120,297,127...120,329,059
JBrowse link
G BRINP3 BMP/retinoic acid inducible neural specific 3 ISO mRNA,protein:decreased expression:intestine RGD PMID:25171508 RGD:14398484 NCBI chr10:2,963,237...3,367,629
Ensembl chr10:2,963,527...3,367,623
JBrowse link
G BTNL2 butyrophilin like 2 susceptibility ISO DNA:SNPs: : rs2294881,rs9268480,rs2076523(human) RGD PMID:19659809 RGD:9685032 NCBI chr 7:24,789,988...24,809,920
Ensembl chr 7:24,790,001...24,809,854
JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799
G CASP3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055189 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
JBrowse link
G CCL20 C-C motif chemokine ligand 20 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16306769 PMID:21887805 RGD:7488892 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCNY cyclin Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr10:57,929,484...58,057,964
Ensembl chr10:57,929,131...58,086,872
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:21077277 RGD:6892920 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16306769 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:intestine, epithelial cell RGD PMID:20133813 RGD:5490590 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G CDH3 cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr 6:18,190,971...18,236,184
Ensembl chr 6:18,191,664...18,235,862
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:15743319 RGD:8662406 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO Protein:increased expression:large intestine mucosa RGD PMID:17011522 RGD:1600887 NCBI chr13:207,907,835...207,984,082
Ensembl chr13:207,907,857...207,985,181
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:17939044 RGD:5688304 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12133438 PMID:15955209 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr15:120,219,657...120,230,203 JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO mRNA:increased expression:peripheral blood immature plasma cells RGD PMID:21087446 RGD:6480657 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:peripheral blood immature plasma cells RGD PMID:21087446 RGD:6480657 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,233
JBrowse link
G DAP death associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr16:250,212...322,075
Ensembl chr16:250,217...322,082
JBrowse link
G DUOX2 dual oxidase 2 ISO mRNA:increased expression:colon (human) RGD PMID:19759286 RGD:40924645 NCBI chr 1:126,620,468...126,641,406
Ensembl chr 1:126,620,477...126,641,419
JBrowse link
G ECM1 extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr 4:98,615,776...98,633,081
Ensembl chr 4:98,615,778...98,633,515
JBrowse link
G EPHB2 EPH receptor B2 ameliorates ISO RGD PMID:33722292 RGD:127285641 NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,649,143...80,843,567
JBrowse link
G ESR2 estrogen receptor 2 ISO mRNA:decreased expression:colon RGD PMID:21252046 RGD:5508810 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21593018 RGD:5147754 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G FAS Fas cell surface death receptor treatment ISO RGD PMID:30122878 RGD:13792562 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:30122878 RGD:13792562 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G GC GC vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human) RGD PMID:21832969 RGD:5509866 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,301...68,360,262
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:19617644 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,316,436...66,452,917
JBrowse link
G GNA12 G protein subunit alpha 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 3:2,002,494...2,105,937
Ensembl chr 3:2,000,863...2,105,949
JBrowse link
G GPR65 G protein-coupled receptor 65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30616622 NCBI chr 7:109,978,913...109,997,688 JBrowse link
G GPX1 glutathione peroxidase 1 ISO protein:decreased expression:erythrocyte RGD PMID:20186929 RGD:11352754 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr15:56,438,117...56,649,805
Ensembl chr15:56,438,107...56,649,796
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,503
JBrowse link
G HNMT histamine N-methyltransferase ISO RGD PMID:18340362 RGD:5509777 NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199
JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:colon mucosa, epithelium (human) RGD PMID:22297444 RGD:5688753 NCBI chr 2:135,345,724...135,391,112
Ensembl chr 2:135,305,749...135,394,185
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:substantia nigra (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15553846 PMID:20584104 RGD:4145388 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr13:207,106,202...207,115,886 JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:altered expression:colon RGD PMID:18938767 RGD:5686432 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IGF2 insulin like growth factor 2 disease_progression ISO RGD PMID:16088202 RGD:5509966 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,724...136,464,942
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18836448 PMID:20228799 PMID:26660358 PMID:28120341 RGD:14975153 RGD:14975255 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 PMID:20228799 PMID:21297633 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,147,247...64,158,952
JBrowse link
G IL17REL interleukin 17 receptor E like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228798 NCBI chr 5:645,882...662,552 JBrowse link
G IL18RAP interleukin 18 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 3:51,762,111...51,794,552
Ensembl chr 3:51,762,119...51,789,965
JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 3:52,367,434...52,406,393
Ensembl chr 3:52,367,437...52,406,334
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8119534 RGD:6909136
G IL23R interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,Haplotype: :rs1884444(human)
CTD
RGD
PMID:18438406 PMID:19122664 PMID:20228799 PMID:23093364 RGD:8549574 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,577
JBrowse link
G IL33 interleukin 33 severity
treatment
ISO mRNA:increased expression:sigmoid colon RGD PMID:21037074 PMID:25112700 PMID:28802904 RGD:39938951 RGD:39938966 RGD:40813742 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,435...215,941,840
JBrowse link
G IL7R interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585
JBrowse link
G IRF5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,686...19,691,154
JBrowse link
G JAK2 Janus kinase 2 ISO DNA:SNP: :rs10758669 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20228799 PMID:21297633 PMID:22269120 RGD:6483020 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,686...217,002,148
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:colon RGD PMID:19013462 RGD:5684406 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G KIF21B kinesin family member 21B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr10:23,444,997...23,491,081
Ensembl chr10:23,444,998...23,491,185
JBrowse link
G LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:lung
CTD
RGD
PMID:12133438 PMID:15955209 PMID:20452301 PMID:22119283 PMID:24812904 RGD:10450593
G LSP1 lymphocyte specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 2:1,261,957...1,295,891
Ensembl chr 2:1,262,081...1,295,891
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,737
JBrowse link
G MASP2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:colon
miRNA:decreased expression:feces
RGD PMID:29325325 PMID:29438285 PMID:29668922 PMID:30927737 RGD:21079443 RGD:21403682 RGD:24922207 RGD:24922213 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MIR31 microRNA mir-31 ISO miRNA:increased expression:colon RGD PMID:29438285 RGD:21403682 NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:18837084 RGD:7207395 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22119283 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20380826 PMID:22119283 PMID:24055189 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G MST1 macrophage stimulating 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 PMID:20228799 NCBI chr13:32,214,934...32,220,045
Ensembl chr13:32,214,937...32,219,902
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G (human) RGD PMID:21947961 RGD:5508217 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,224...74,270,802
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:altered expression: : RGD PMID:12870797 RGD:2324685 NCBI chr 2:689,363...719,542 JBrowse link
G NKX2-3 NK2 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 PMID:18438406 PMID:20228799 NCBI chr14:110,720,384...110,724,002
Ensembl chr14:110,720,397...110,724,001
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452301 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr12:22,411,130...22,417,744
Ensembl chr12:22,411,259...22,429,621
JBrowse link
G PON1 paraoxonase 1 ISO mRNA:decreased expression:colon RGD PMID:17664137 RGD:5509924 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PON3 paraoxonase 3 ISO mRNA:decreased expression:colon RGD PMID:17664137 RGD:5509924 NCBI chr 9:74,983,040...75,017,947
Ensembl chr 9:74,991,277...75,017,942
JBrowse link
G PRDM1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 1:72,309,096...72,335,474
Ensembl chr 1:72,311,880...72,335,466
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO RGD PMID:21818367 RGD:6483532 NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO RGD PMID:17429720 RGD:2300267 NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:17429720 RGD:2300267 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr 6:96,769,862...96,847,136
Ensembl chr 6:96,770,251...96,847,133
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15955209 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
JBrowse link
G RIPK2 receptor interacting serine/threonine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452301 NCBI chr 4:47,026,558...47,075,133
Ensembl chr 4:47,027,092...47,074,725
JBrowse link
G SELL selectin L ISO DNA:polymorphism: :p.F206L (human) RGD PMID:19212205 RGD:13464267 NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,373...81,326,778
JBrowse link
G SELP selectin P ISO protein:increased expression:serum RGD PMID:21526498 RGD:6218993 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,406,203
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human)
DNA:transition, repeat:promoter:-237C>T (human)
CTD
RGD
PMID:11929588 PMID:16059695 PMID:18340647 RGD:5684939 RGD:5684968 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G SLC26A3 solute carrier family 26 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915573 NCBI chr 9:107,480,629...107,518,771
Ensembl chr 9:107,480,641...107,518,728
JBrowse link
G SPHK1 sphingosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055189 NCBI chr12:5,114,946...5,122,580
Ensembl chr12:5,114,948...5,120,119
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO DNA:SNP: :rs744166 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18438405 PMID:20228799 PMID:22269120 RGD:6483020 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G THBD thrombomodulin ISO protein:decreased expression:colon, blood vessel RGD PMID:17557119 RGD:5685011 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TNF tumor necrosis factor treatment ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19617644 PMID:20452301 PMID:22119283 PMID:24812904 PMID:25204186 More... RGD:10450577 RGD:10450593 RGD:14975153 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFSF15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 1:255,328,731...255,349,508
Ensembl chr 1:255,325,936...255,349,456
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15553846 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:colon, plasma RGD PMID:19013462 RGD:5684406 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VIP vasoactive intestinal peptide severity ISO mRNA:decreased expression:colon RGD PMID:22143367 RGD:5685619 NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269
JBrowse link
G VIPR1 vasoactive intestinal peptide receptor 1 ISO RGD PMID:17611633 RGD:5685618 NCBI chr13:26,036,610...26,073,168
Ensembl chr13:26,036,629...26,075,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13699
    disease of anatomical entity 13372
      gastrointestinal system disease 5567
        autoimmune disease of gastrointestinal tract 231
          autoimmune gastritis 1
          autoimmune hepatitis + 34
          celiac disease 47
          primary biliary cholangitis + 95
          ulcerative colitis + 100
Path 2
Term Annotations click to browse term
  disease 13699
    disease of anatomical entity 13372
      Immune & Inflammatory Diseases 3380
        immune system disease 2876
          primary immunodeficiency disease 2260
            autoimmune disease 1463
              autoimmune disease of gastrointestinal tract 231
                autoimmune gastritis 1
                autoimmune hepatitis + 34
                celiac disease 47
                primary biliary cholangitis + 95
                ulcerative colitis + 100
paths to the root