Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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:8393475, PMID:7517707 RGD:14696740, RGD:14696746 NCBI chr16:81,136,218...81,145,131
Ensembl chr16:81,136,218...81,145,131
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16115720 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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 chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
JBrowse link
G Cyp2d3 cytochrome P450, family 2, subfamily d, polypeptide 3 ISO RGD PMID:3186722 RGD:7207226 NCBI chr 7:123,634,400...123,638,757
Ensembl chr 7:123,625,590...123,638,765
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO protein:increased expression:serum: RGD PMID:10435724 RGD:11353781 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr10:11,757,681...11,760,672
Ensembl chr10:11,757,682...11,760,620
JBrowse link
G F2 coagulation factor II disease_progression ISO RGD PMID:21711423, PMID:20821236 RGD:5147750, RGD:5147775 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fas Fas cell surface death receptor treatment ISO protein:increased expression:lymphocyte: RGD PMID:28551553, PMID:26429926 RGD:14700710, RGD:14700711 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand treatment ISO RGD PMID:28551553 RGD:14700710 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO human gene in a mouse model RGD PMID:9195373 RGD:14694814 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il2 interleukin 2 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906, PMID:29233784, PMID:29323192 RGD:14747042, RGD:14747037 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il22 interleukin 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
JBrowse link
G Il4 interleukin 4 treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
DNA:SNPs:promoter:-590C>T,-33T>C (human)
CTD PMID:21227906, PMID:30034292, PMID:30034292, PMID:26735262 RGD:14696683, RGD:14696683, RGD:14696677 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:30290123, PMID:29420849 RGD:21081535, RGD:21409750 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir223 microRNA 223 treatment ISO RGD PMID:31826604, PMID:29145157 RGD:21408546, RGD:21408563 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 IDA
ISO
RGD PMID:20208391, PMID:20208391 RGD:9999172, RGD:9999172 NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:20007077, PMID:17050030 RGD:5147584, RGD:5147634 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphisms: :multiple (human)
DNA:polymorphism (human)
RGD PMID:17050030, PMID:10573514, PMID:11182227, PMID:15763345 RGD:5147634, RGD:5147856, RGD:5147810, RGD:5147652 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human) RGD PMID:28977835 RGD:25671419 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:polymorphism: : GAD
RGD
PMID:15118671, PMID:15683428 RGD:1331525, RGD:14402024 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:250,557,042...250,665,083
Ensembl chr 1:250,557,044...250,630,677
JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:47,458,891...47,807,176
Ensembl chr 5:47,546,014...47,807,166
JBrowse link
G Capn8 calpain 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr13:100,980,149...101,043,110
Ensembl chr13:100,980,574...101,043,110
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
JBrowse link
G Cd14 CD14 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: RGD PMID:18728522 RGD:2314152 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CELIAC DISEASE, SUSCEPTIBILITY TO, 3
DNA:SNPs,haplotype: :rs231770,rs231775(human)
ClinVar Annotator: match by OMIM:609755
CTD
ClinVar
OMIM
PMID:8817351, PMID:9259273, PMID:9398726, PMID:10189842, PMID:10475192, PMID:11098935, PMID:11158025, PMID:12724780, PMID:15138458, PMID:15199380, PMID:15301861, PMID:15688186, PMID:24033266, PMID:25741868, PMID:26884280, PMID:27577878, PMID:28492532, PMID:10189842, PMID:19020530 RGD:1300387, RGD:11344917 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:17,195,395...17,198,170
Ensembl chr14:17,195,014...17,198,291
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 8:33,756,634...33,879,625
Ensembl chr 8:33,816,386...33,879,625
JBrowse link
G F2 coagulation factor II ISO RGD PMID:23556408 RGD:7387257 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gbp5 guanylate binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:248,178,441...248,196,873
Ensembl chr 2:248,178,389...248,197,160
JBrowse link
G Icos inducible T-cell co-stimulator susceptibility ISO DNA:SNP,haplotype: :rs10932037(human) RGD PMID:19020530 RGD:11344917 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr20:11,330,000...11,340,307
Ensembl chr20:11,329,992...11,340,296
JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 6:127,327,959...127,334,430
Ensembl chr 6:127,327,959...127,334,428
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691, PMID:26440733 RGD:14974259 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:27545437 RGD:14975156 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il15 interleukin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23269601 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558408 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP:cds:p.R381Q(rs11209026)(human) RGD PMID:19175939, PMID:18368064 RGD:8549604, RGD:8549631 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Myo9b myosin IXb susceptibility ISO ClinVar Annotator: match by OMIM:609753
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15822038, PMID:16282976 NCBI chr16:19,669,373...19,754,065
Ensembl chr16:19,669,411...19,754,069
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Piwil2 piwi-like RNA-mediated gene silencing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr15:52,037,693...52,116,277
Ensembl chr15:52,037,693...52,116,001
JBrowse link
G Pon1 paraoxonase 1 ISO mRNA:decreased expression:duodenum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:decreased expression:duodenum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent
associated with Down Syndrome;DNA:polymorphism (human)
associated with Thyroiditis, Autoimmune;DNA:polymorphism (human)
DNA:polymorphisms (human)
OMIM PMID:16567828, PMID:11426458, PMID:11713456, PMID:18509540, PMID:19494267, PMID:17919990 RGD:2301813, RGD:5147854, RGD:5147808, RGD:5147791, RGD:5147789, RGD:5147625 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism (human)
DNA:polymorphisms
associated with Down Syndrome;DNA:polymorphisms, haplotype:HLA-DQB1*0201 (human)
associated with Thyroiditis, Autoimmune;DNA:polymorphisms, haplotype:HLA-DQB1*02 (human)
DNA:polymorphisms, haplotypes:multiple (human)
OMIM PMID:17919990, PMID:29793442, PMID:30013750, PMID:28247576, PMID:11426458, PMID:11713456, PMID:18509540, PMID:19494267 RGD:5147625, RGD:14974234, RGD:14928328, RGD:14865008, RGD:5147854, RGD:5147808, RGD:5147791, RGD:5147789 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms (human) RGD PMID:12404952 RGD:5147803 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:190,097,436...190,100,209
Ensembl chr 2:190,097,554...190,100,276
JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr  X:120,624,522...120,647,964
Ensembl chr  X:120,624,518...120,649,111
JBrowse link
G Soat2 sterol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
JBrowse link
G Tff1 trefoil factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:9,892,124...9,895,984
Ensembl chr20:9,892,124...9,895,984
JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:duodenum: RGD PMID:15054143 RGD:11062102 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17190764 NCBI chr 3:154,597,165...154,627,257
Ensembl chr 3:154,597,168...154,627,257
JBrowse link
G Themis thymocyte selection associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 1:17,152,973...17,378,225
Ensembl chr 1:17,171,631...17,378,047
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:172,328,259...172,337,221
Ensembl chr 5:172,328,262...172,335,892
JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 5:168,009,245...168,035,813
Ensembl chr 5:168,009,393...168,035,810
JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:1,876,175...1,878,126
Ensembl chr20:1,876,173...1,897,814
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 9:95,256,628...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:22,614,832...22,625,134
Ensembl chr 1:22,614,783...22,625,204
JBrowse link
G Zmiz1 zinc finger, MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr16:1,749,191...1,954,633
Ensembl chr16:1,749,191...1,954,614
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 OMIM:604901
ClinVar Annotator: match by term: North american indian childhood cirrhosis
ClinVar
OMIM
PMID:12417987, PMID:22916032, PMID:25741868, PMID:27535533, PMID:28492532 NCBI chr19:39,087,995...39,116,124
Ensembl chr19:39,087,990...39,116,125
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 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
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 PMID:20040336, PMID:30682444, PMID:18671305 RGD:14694982 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
CTD PMID:15542527, PMID:15770136 RGD:14700810 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15542527 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:liver RGD PMID:19389807 RGD:2325226 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 IEP mRNA, protein:increased expression:liver RGD PMID:17532087 RGD:9685452 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Agt angiotensinogen IEP protein:increased expression:plasma RGD PMID:17532087 RGD:9685452 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:20451280 RGD:5148030 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:
CTD PMID:12126966, PMID:15770052 RGD:14995336 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:liver (rat) RGD PMID:19371232 RGD:2314517 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Cd3d CD3d molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cdh5 cadherin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr19:1,025,122...1,074,333
Ensembl chr19:1,023,683...1,074,365
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:18456456 RGD:8662434 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cenpb centromere protein B ISO RGD PMID:8911074 RGD:27226708 NCBI chr 3:123,720,888...123,723,520
Ensembl chr 3:123,721,486...123,723,524
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 IEP protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485
JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 ISO protein:increased expression:liver RGD PMID:26627607 RGD:11528851 NCBI chr10:15,984,520...16,047,209
Ensembl chr10:15,987,921...16,046,033
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility
disease_progression
no_association
ISO autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) (human)
DNA:SNP:CDS:60G>A(rs3087243)(human)
DNA:SNPs: :rs231775, rs3087243, rs231725 (human)
DNA:SNP:CDS:49A>G(human)
RGD PMID:10782900, PMID:16584111, PMID:21594562, PMID:17482523 RGD:2301998, RGD:14398744, RGD:14398743, RGD:14398725 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 8:48,835,688...48,852,032
Ensembl chr 8:48,836,957...48,850,671
JBrowse link
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
JBrowse link
G Dag1 dystroglycan 1 IEP mRNA:increased expression:liver RGD PMID:12177244 RGD:2314895 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dennd1b DENN domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr13:56,015,813...56,242,041
Ensembl chr13:56,015,901...56,236,677
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr10:11,757,681...11,760,672
Ensembl chr10:11,757,682...11,760,620
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15651265, PMID:15651265 RGD:9685530 NCBI chr 3:2,617,795...2,623,818
Ensembl chr 3:2,617,805...2,623,445
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO
IEP
mRNA:decreased expression:liver RGD PMID:19652645, PMID:23704825 RGD:11041639, RGD:11041732 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hhip Hedgehog-interacting protein IEP mRNA:decreased expression: RGD PMID:18375471 RGD:11552599 NCBI chr19:31,525,134...31,614,487
Ensembl chr19:31,524,671...31,614,246
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22271822 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmox1 heme oxygenase 1 IEP mRNA, protein:increased expression:liver, lung RGD PMID:12114196 RGD:625603 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO associated with Graft vs Host Disease; RGD PMID:10051478 RGD:11520783 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr14:87,448,716...87,453,783
Ensembl chr14:87,448,692...87,453,785
JBrowse link
G Il10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:17158635 RGD:38501106 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12a interleukin 12A susceptibility
treatment
ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype: :rs6441286, rs574808(human)
DNA:SNP: :rs62270414(human)
DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human)
CTD PMID:20639880, PMID:19458352, PMID:23433321, PMID:27175695 RGD:25440500, RGD:25440498, RGD:25440489 NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il12rb1 interleukin 12 receptor subunit beta 1 susceptibility IEP RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23910013 RGD:14700865 NCBI chr16:20,370,722...20,383,576
Ensembl chr16:20,371,338...20,383,337
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:20442198 RGD:7829828 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635
G Jak2 Janus kinase 2 treatment IMP RGD PMID:24619965 RGD:10403061 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Krt18 keratin 18 severity ISO protein:increased expression:serum (human) RGD PMID:26110613 RGD:18337483 NCBI chr 7:143,629,455...143,633,131
Ensembl chr 7:143,629,455...143,633,131
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21681009 NCBI chr 7:143,059,731...143,075,907
Ensembl chr 7:143,059,764...143,075,907
JBrowse link
G Lbr lamin B receptor ISO RGD PMID:8550049 RGD:9588625 NCBI chr13:100,431,390...100,450,209 JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO protein:increased expression:serum: RGD PMID:16093869 RGD:10411894 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr15:51,276,022...51,365,238
Ensembl chr15:51,303,909...51,365,234
JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 MouseDO NCBI chr10:91,303,428...91,353,601
Ensembl chr10:91,303,428...91,353,601
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor IEP RGD PMID:17532087 RGD:9685452 NCBI chr 1:48,076,761...48,108,218
Ensembl chr 1:48,077,033...48,108,216
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:19208365 RGD:14694826 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mir21 microRNA 21 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir223 microRNA 223 severity ISO RGD PMID:28886078 RGD:21408577 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639879 NCBI chr 5:172,273,450...172,303,905
Ensembl chr 5:172,273,459...172,304,225
JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:20056896 RGD:8552731 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:18507686 RGD:2324885 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nos2 nitric oxide synthase 2 IEP
ISO
protein:increased expression, increased activity:brain (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:30026087, PMID:21903766 RGD:5509055 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:altered expression:leukocyte, mononuclear RGD PMID:15635817 RGD:4892607 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Nsa2 NSA2 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr 2:27,942,546...27,949,089
Ensembl chr 2:27,942,546...27,949,089
JBrowse link
G Nup62 nucleoporin 62 severity ISO RGD PMID:12753810 RGD:9831196 NCBI chr 1:100,811,140...100,827,119
Ensembl chr 1:100,811,755...100,827,111
JBrowse link
G Pde5a phosphodiesterase 5A IMP RGD PMID:17610866 RGD:2314466 NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA, protein:decreased expression:liver RGD PMID: RGD:6484526 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Ren renin IEP protein:increased activity:plasma (rat) RGD PMID:22266601 RGD:6892690 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased phosphorylation:liver RGD PMID:15769867 RGD:1642977 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : RGD PMID:15713222 RGD:14401562 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18188457 NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223
JBrowse link
G Slc51a solute carrier family 51 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr11:71,533,078...71,547,476
Ensembl chr11:71,533,078...71,547,476
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16423920 NCBI chr 8:70,930,196...70,938,559
Ensembl chr 8:70,930,347...70,932,986
JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 4:176,158,174...176,231,331
Ensembl chr 4:176,158,640...176,231,344
JBrowse link
G Slco1c1 solute carrier organic anion transporter family, member 1c1 IEP protein:decreased expression:liver RGD PMID:15770136 RGD:14700810 NCBI chr 4:175,729,709...175,776,749
Ensembl chr 4:175,729,726...175,776,808
JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:serum RGD PMID:1682406 RGD:2317411 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spib Spi-B transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20639880 NCBI chr 1:100,531,538...100,537,397
Ensembl chr 1:100,531,457...100,537,377
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
DNA:SNP: intron: (rs7574865) (human)
DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
DNA:SNPs, haplotypes:multiple
CTD PMID:21399635, PMID:26084578, PMID:28395724, PMID:24648611, PMID:24648611 RGD:25671421, RGD:25671416, RGD:25671415, RGD:25671415 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026087 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:increased expression:liver, peripheral blood mononuclear cell (human) RGD PMID:23026026 RGD:18337477 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21399635 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961000 NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422935 NCBI chr20:1,876,175...1,878,126
Ensembl chr20:1,876,173...1,897,814
JBrowse link
G Utp4 UTP4 small subunit processome component ISO North American Indian childhood cirrhosis, OMIM:604901, R565W RGD PMID:12417987 RGD:1600653 NCBI chr19:39,087,995...39,116,124
Ensembl chr19:39,087,990...39,116,125
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:polymorphism: :
DNA:SNP: :
GAD
RGD
PMID:15118671, PMID:15683428, PMID:19376604 RGD:1331525, RGD:14402024, RGD:14401750 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
protein:increased expression:liver
protein:increased expression:plasma:
RGD PMID:26627607, PMID:26615570 RGD:11528851, RGD:11538286 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar
PMID:20522425, PMID:25741868 NCBI chr13:100,431,390...100,450,209 JBrowse link
ulcerative colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO RGD PMID:15505619 RGD:1598568 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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 1:189,514,504...189,541,233
Ensembl chr 1:189,514,553...189,541,224
JBrowse link
G Adcy7 adenylate cyclase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28067910 NCBI chr19:19,702,307...19,762,973
Ensembl chr19:19,704,859...19,727,081
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:16432373 RGD:5686726 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb2 adrenoceptor beta 2 IEP protein:decreased expression:large intestine mucosa,spleen RGD PMID:22772914 RGD:7175063 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO protein:increased expression:large intestine epithelium RGD PMID:7679252 RGD:5509621 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G Alpi alkaline phosphatase, intestinal ISO protein:decreased expression:colonic mucosa RGD PMID:22783049 RGD:14367879 NCBI chr 9:94,197,616...94,201,910
Ensembl chr 9:94,197,618...94,201,084
JBrowse link
G Apln apelin ISO protein:increased expression:intestine RGD PMID:17391779 RGD:1626177 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Apoa4 apolipoprotein A4 severity ISO DNA:missense mutation:cds:p.Q360H (human) RGD PMID:17206692 RGD:5685660 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Aqp7 aquaporin 7 severity ISO mRNA, protein:decreased expression:colon RGD PMID:15338270 RGD:1626292 NCBI chr 5:57,358,297...57,372,332
Ensembl chr 5:57,358,327...57,372,239
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18836448 NCBI chr 9:81,518,163...81,548,871
Ensembl chr 9:81,518,176...81,548,871
JBrowse link
G Brinp3 BMP/retinoic acid inducible neural specific 3 ISO mRNA,protein:decreased expression:intestine RGD PMID:25171508 RGD:14398484 NCBI chr13:63,526,486...63,959,390
Ensembl chr13:63,526,486...63,959,332
JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNPs: : rs2294881,rs9268480,rs2076523(human) RGD PMID:19659809 RGD:9685032 NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055189 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16306769, PMID:21887805 RGD:7488892 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:colon RGD PMID:10433925 RGD:6483784 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Ccny cyclin Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr17:62,332,537...62,462,644
Ensembl chr17:62,332,537...62,462,644
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21077277 RGD:6892920 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16306769 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:intestine, epithelial cell RGD PMID:20133813 RGD:5490590 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cdh3 cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr19:38,668,957...38,719,801
Ensembl chr19:38,669,230...38,719,677
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A disease_progression ISO RGD PMID:15743319 RGD:8662406 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain IEP Protein:increased expression:large intestine mucosa RGD PMID:17011522 RGD:1600887 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:17939044 RGD:5688304 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 9:81,466,430...81,469,299
Ensembl chr 9:81,466,332...81,469,274
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO mRNA:increased expression:peripheral blood immature plasma cells (human) RGD PMID:21087446 RGD:6480657 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:peripheral blood immature plasma cells (human) RGD PMID:21087446 RGD:6480657 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dap death-associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 2:84,275,884...84,328,998
Ensembl chr 2:84,275,884...84,328,998
JBrowse link
G Defa5 defensin alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452301 NCBI chr16:75,338,050...75,340,401
Ensembl chr16:75,338,052...75,340,360
JBrowse link
G Ecm1 extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406 NCBI chr 2:197,855,468...197,860,973
Ensembl chr 2:197,855,460...197,860,699
JBrowse link
G Esr2 estrogen receptor 2 ISO mRNA:decreased expression:colon RGD PMID:21252046 RGD:5508810 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G F2 coagulation factor II ISO RGD PMID:21593018 RGD:5147754 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fas Fas cell surface death receptor treatment IEP RGD PMID:30122878 RGD:13792562 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand treatment IEP RGD PMID:30122878 RGD:13792562 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO DNA:polymorphism: :p.A519G (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs1801274 (human)
CTD PMID:19915573, PMID:20228799, PMID:20848524, PMID:19915573 RGD:5147918, RGD:5147922 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Gc GC, vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human) RGD PMID:21832969 RGD:5509866 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:19617644 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Gna12 G protein subunit alpha 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr12:15,890,202...15,971,212
Ensembl chr12:15,890,170...15,971,212
JBrowse link
G Gpr65 G-protein coupled receptor 65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30616622 NCBI chr 6:122,248,528...122,256,115
Ensembl chr 6:122,254,841...122,256,251
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO protein:decreased expression:erythrocyte RGD PMID:20186929 RGD:11352754 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:17565649, PMID:28626742, PMID:26604430 RGD:5490554, RGD:14700999, RGD:11538341 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:17565649, PMID:26604430 RGD:5490554, RGD:11538341 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:18340362 RGD:5509777 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
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 chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP
ISO
mRNA:increased expression:substantia nigra (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:15553846, PMID:20584104 RGD:4145388 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr20:11,330,000...11,340,307
Ensembl chr20:11,329,992...11,340,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein:altered expression:colon RGD PMID:18938767 RGD:5686432 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:16088202 RGD:5509966 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18836448, PMID:20228799, PMID:26660358, PMID:28120341 RGD:14975255, RGD:14975153 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406, PMID:20228799, PMID:21297633 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il18rap interleukin 18 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 9:47,225,543...47,255,805
Ensembl chr 9:47,225,585...47,258,503
JBrowse link
G Il1b interleukin 1 beta IEP
ISO
protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:12133438, PMID:15955209, PMID:20452301, PMID:22119283, PMID:24812904 RGD:10450593 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 9:46,840,646...46,881,241
Ensembl chr 9:46,840,992...46,881,264
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8119534 RGD:6909136 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il23r interleukin 23 receptor ISO DNA:SNP,Haplotype: :rs1884444(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18438406, PMID:19122664, PMID:20228799, PMID:23093364 RGD:8549574 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il33 interleukin 33 treatment ISO mRNA:increased expression:sigmoid colon RGD PMID:25112700, PMID:28802904 RGD:39938951, RGD:39938966 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633
G Irf5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Irgm immunity-related GTPase M ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr10:34,213,885...34,221,968
Ensembl chr10:34,213,936...34,221,928
JBrowse link
G Jak2 Janus kinase 2 ISO DNA:SNP: :rs10758669 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20228799, PMID:21297633, PMID:22269120 RGD:6483020 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:colon RGD PMID:19013462 RGD:5684406 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kif21b kinesin family member 21B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr13:52,976,505...53,026,750
Ensembl chr13:52,976,507...53,023,103
JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915572 NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr 1:215,628,750...215,662,505
Ensembl chr 1:215,628,785...215,662,504
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:feces
miRNA:increased expression:colon
RGD PMID:30927737, PMID:29668922, PMID:29325325, PMID:29438285 RGD:21079443, RGD:24922213, RGD:24922207, RGD:21403682 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir31 microRNA 31 ISO miRNA:increased expression:colon RGD PMID:29438285 RGD:21403682 NCBI chr 5:107,206,515...107,206,620 JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA RGD PMID:18837084 RGD:7207395 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22119283 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20380826, PMID:22119283, PMID:24055189 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Mst1 macrophage stimulating 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438406, PMID:20228799 NCBI chr 8:116,857,716...116,862,286
Ensembl chr 8:116,857,684...116,862,423
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G (human) RGD PMID:21947961 RGD:5508217 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:altered expression: : RGD PMID:12870797 RGD:2324685 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Nkx2-3 NK2 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405, PMID:18438406, PMID:20228799 NCBI chr 1:263,361,238...263,371,043
Ensembl chr 1:263,367,266...263,370,219
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452301 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr10:86,545,910...86,554,478
Ensembl chr10:86,547,339...86,554,478
JBrowse link
G Pon1 paraoxonase 1 ISO mRNA:decreased expression:colon (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:decreased expression:colon (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21297633 NCBI chr20:49,464,921...49,556,623
Ensembl chr20:49,464,919...49,556,518
JBrowse link
G Psmg1 proteasome assembly chaperone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr11:36,327,798...36,337,289
Ensembl chr11:36,327,800...36,337,256
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:21818367 RGD:6483532 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IMP RGD PMID:17429720 RGD:2300267 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:17429720 RGD:2300267 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438405 NCBI chr18:63,415,298...63,489,240
Ensembl chr18:63,415,306...63,488,027
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15955209 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Ripk2 receptor-interacting serine-threonine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452301 NCBI chr 5:29,838,713...29,870,390
Ensembl chr 5:29,838,747...29,870,735
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Ulcerative colitis ClinVar PMID:30311386 NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:31038770 RGD:14865009 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25559196 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sell selectin L ISO DNA:polymorphism: :p.F206L (human) RGD PMID:19212205 RGD:13464267 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Selp selectin P ISO protein:increased expression:serum RGD PMID:21526498 RGD:6218993 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:transition, repeat:promoter:-237C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human)
CTD PMID:16059695, PMID:18340647, PMID:11929588 RGD:5684939, RGD:5684968 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915573 NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
JBrowse link
G Sphk1 sphingosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055189 NCBI chr10:105,498,728...105,504,401
Ensembl chr10:105,498,728...105,504,393
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO DNA:SNP: :rs744166 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18438405, PMID:20228799, PMID:22269120 RGD:6483020 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Ulcerative colitis ClinVar PMID:30311386 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Thbd thrombomodulin ISO protein:decreased expression:colon, blood vessel RGD PMID:17557119 RGD:5685011 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:increased expression:lung
CTD PMID:19617644, PMID:20452301, PMID:22119283, PMID:25204186, PMID:28120341, PMID:24812904 RGD:10450577, RGD:14975153, RGD:10450593 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20228799 NCBI chr 5:79,553,935...79,569,974
Ensembl chr 5:79,553,742...79,570,073
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15553846 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma, large intestine mucosa RGD PMID:19013462 RGD:5684406 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vip vasoactive intestinal peptide severity ISO mRNA:decreased expression:colon RGD PMID:22143367 RGD:5685619 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 ISO RGD PMID:17611633 RGD:5685618 NCBI chr 8:130,283,453...130,313,431 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      gastrointestinal system disease 4621
        autoimmune disease of gastrointestinal tract 249
          autoimmune gastritis 1
          autoimmune hepatitis + 36
          celiac disease 55
          primary biliary cholangitis + 98
          ulcerative colitis + 110
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          primary immunodeficiency disease 2346
            autoimmune disease 1666
              autoimmune disease of gastrointestinal tract 249
                autoimmune gastritis 1
                autoimmune hepatitis + 36
                celiac disease 55
                primary biliary cholangitis + 98
                ulcerative colitis + 110
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.