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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:celiac disease
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Accession:DOID:10608 term browser browse the term
Definition:An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. (DO)
Synonyms:exact_synonym: GSES;   Gluten Enteropathies;   Gluten Enteropathy;   Gluten-Sensitive Enteropathies;   celiac sprue;   coeliac disease;   gluten-sensitive enteropathy;   idiopathic steatorrhea;   nontropical sprue;   sprue
 narrow_synonym: AIS5
 related_synonym: CELIAC1;   CELIAC10;   CELIAC11;   CELIAC12;   CELIAC13;   CELIAC2;   CELIAC3;   CELIAC4;   CELIAC5;   CELIAC6;   CELIAC7;   CELIAC8;   CELIAC9;   celiac disease, susceptibility to, 1;   celiac disease, susceptibility to, 10;   celiac disease, susceptibility to, 11;   celiac disease, susceptibility to, 12;   celiac disease, susceptibility to, 13;   celiac disease, susceptibility to, 2;   celiac disease, susceptibility to, 3;   celiac disease, susceptibility to, 4;   celiac disease, susceptibility to, 5;   celiac disease, susceptibility to, 6;   celiac disease, susceptibility to, 7;   celiac disease, susceptibility to, 8;   celiac disease, susceptibility to, 9;   celiac sprue, susceptibility to, 1;   gluten-sensitive enteropathy, susceptibility to, 1;   gluten-sensitive enteropathy, susceptibility to, 10;   gluten-sensitive enteropathy, susceptibility to, 11;   gluten-sensitive enteropathy, susceptibility to, 12;   gluten-sensitive enteropathy, susceptibility to, 13;   gluten-sensitive enteropathy, susceptibility to, 2;   gluten-sensitive enteropathy, susceptibility to, 3;   gluten-sensitive enteropathy, susceptibility to, 4;   gluten-sensitive enteropathy, susceptibility to, 5;   gluten-sensitive enteropathy, susceptibility to, 6;   gluten-sensitive enteropathy, susceptibility to, 7;   gluten-sensitive enteropathy, susceptibility to, 8;   gluten-sensitive enteropathy, susceptibility to, 9
 primary_id: MESH:D002446
 alt_id: MIM:212750;   MIM:607202;   MIM:609753;   MIM:609754;   MIM:609755;   MIM:611598;   MIM:612005;   MIM:612006;   MIM:612007;   MIM:612008;   MIM:612009;   MIM:612010;   MIM:612011
 xref: EFO:0001060;   GARD:11998;   ICD10CM:K90.0;   ICD9CM:579.0;   MIM:PS212750;   NCI:C26714;   ORDO:555
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:36,563,704...36,611,814 		JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:55,428,024...55,458,679 		JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:239,278,994...239,386,598
Ensembl chr 1:239,278,994...239,382,024 		JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:51,428,802...51,779,030
Ensembl chr 5:51,434,870...51,774,234 		JBrowse link
G Capn8 calpain 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr13:96,783,640...96,847,825
Ensembl chr13:96,783,667...96,847,820 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 8:123,054,505...123,060,244
Ensembl chr 8:123,054,324...123,077,642 		JBrowse link
G Cd14 CD14 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: RGD PMID:18728522 RGD:2314152 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292 		JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:75,760,147...75,797,540 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNPs,haplotype: :rs231770,rs231775(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3 		CTD
ClinVar
OMIM
RGD		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... RGD:1300387, RGD:11344917 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261 		JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:15,973,728...15,976,503
Ensembl chr14:15,973,720...15,976,567 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:16,007,166...16,012,077
Ensembl chr14:16,007,204...16,014,299 		JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 8:39,303,936...39,426,022
Ensembl chr 8:39,303,925...39,426,021 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:23556408 RGD:7387257 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246 		JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		JBrowse link
G Gbp5 guanylate binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:233,910,999...233,930,320
Ensembl chr 2:233,902,113...233,930,826 		JBrowse link
G Icos inducible T-cell co-stimulator susceptibility ISO DNA:SNP,haplotype: :rs10932037(human) RGD PMID:19020530 RGD:11344917 NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:69,877,785...69,900,960 		JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr20:10,600,078...10,610,385
Ensembl chr20:10,600,078...10,610,365 		JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 6:128,355,312...128,361,783
Ensembl chr 6:128,355,079...128,361,781 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30097691 PMID:26440733 RGD:14974259 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:27545437 RGD:14975156 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il15 interleukin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23269601 NCBI chr19:42,536,160...42,611,349
Ensembl chr19:42,545,346...42,611,348 		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 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142 		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 4:97,910,230...98,003,759
Ensembl chr 4:97,909,972...98,004,110 		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 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr16:25,596,205...25,621,928
Ensembl chr16:25,596,211...25,622,107 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:170,562,148...170,571,212
Ensembl chr 2:170,565,543...170,571,148 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:12,866,641...12,884,478 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:12,925,280...12,938,826 		JBrowse link
G Myo9b myosin IXb ISO ClinVar Annotator: match by term: Celiac disease, susceptibility to, 4 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 4 ClinVar PMID:15822038 PMID:16282976 PMID:25741868 PMID:28492532 NCBI chr16:17,979,374...18,064,100
Ensembl chr16:17,979,439...18,064,332 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 3:182,348,572...182,354,521
Ensembl chr 3:182,348,572...182,354,561 		JBrowse link
G Piwil2 piwi-like RNA-mediated gene silencing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr15:51,841,104...51,907,729
Ensembl chr15:51,841,405...51,907,819 		JBrowse link
G Pon1 paraoxonase 1 ISO mRNA:decreased expression:duodenum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:decreased expression:duodenum (human) RGD PMID:17664137 RGD:5509924 NCBI chr 4:34,323,546...34,350,244
Ensembl chr 4:34,315,889...34,350,244 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent
DNA:polymorphism (human)
DNA:polymorphisms (human)
associated with Thyroiditis, Autoimmune;DNA:polymorphism (human)
associated with Down Syndrome;DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism 		OMIM
CTD
RGD		 PMID:16567828 PMID:17919990 PMID:19494267 PMID:18509540 PMID:11713456 More... RGD:2301813, RGD:5147625, RGD:5147789, RGD:5147791, RGD:5147808, RGD:5147854 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism (human)
DNA:polymorphisms, haplotypes:multiple (human)
associated with Thyroiditis, Autoimmune;DNA:polymorphisms, haplotype:HLA-DQB1*02 (human)
associated with Down Syndrome;DNA:polymorphisms, haplotype:HLA-DQB1*0201 (human)
CTD Direct Evidence: marker/mechanism 		CTD
OMIM
RGD		 PMID:17919990 PMID:19494267 PMID:18509540 PMID:11713456 PMID:11426458 More... RGD:5147625, RGD:5147789, RGD:5147791, RGD:5147808, RGD:5147854, RGD:14865008, RGD:14928328, RGD:14974234 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms (human) RGD PMID:12404952 RGD:5147803 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:152,644,270...152,702,835 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:178,487,941...178,490,622
Ensembl chr 2:178,487,941...178,490,870 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr  X:117,109,063...117,169,522
Ensembl chr  X:117,108,947...117,169,828 		JBrowse link
G Soat2 sterol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:135,160,424...135,173,521
Ensembl chr 7:135,160,402...135,173,513 		JBrowse link
G Tff1 trefoil factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:9,237,095...9,240,956
Ensembl chr20:9,237,095...9,240,956 		JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:duodenum: RGD PMID:15054143 RGD:11062102 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17190764 NCBI chr 3:167,192,612...167,221,845
Ensembl chr 3:167,192,612...167,304,240 		JBrowse link
G Themis thymocyte selection associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 1:18,251,136...18,483,851
Ensembl chr 1:18,272,056...18,483,502 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046 		JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 5:166,664,494...166,690,834
Ensembl chr 5:166,664,494...166,690,831 		JBrowse link
G Ubd ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:1,390,734...1,392,685
Ensembl chr20:1,390,600...1,413,965 		JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 9:96,210,053...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:13,216,693...13,243,016
Ensembl chr20:13,216,691...13,277,562 		JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:23,356,324...23,366,629
Ensembl chr 1:23,356,330...23,366,629 		JBrowse link
G Zmiz1 zinc finger, MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr16:1,033,983...1,239,425
Ensembl chr16:1,034,020...1,239,406 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Malabsorption Syndromes 215
        celiac disease 56
          refractory celiac disease 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Immune & Inflammatory Diseases 5781
        immune system disease 5094
          primary immunodeficiency disease 4502
            autoimmune disease 2380
              autoimmune disease of gastrointestinal tract 279
                celiac disease 56
                  refractory celiac disease 0
paths to the root