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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: OMIM:212750;   OMIM:607202;   OMIM:609753;   OMIM:609754;   OMIM:609755;   OMIM:611598;   OMIM:612005;   OMIM:612006;   OMIM:612007;   OMIM:612008;   OMIM:612009;   OMIM:612010;   OMIM:612011
 xref: EFO:0001060;   GARD:11998;   ICD10CM:K90.0;   ICD9CM:579.0;   NCI:C26714;   OMIM:PS212750;   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 APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:108,196,283...108,199,274
Ensembl chr 1:108,196,939...108,199,342 		JBrowse link
G ASAH2 N-acylsphingosine amidohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 9:80,409,649...80,501,527
Ensembl chr 9:80,409,478...80,476,731 		JBrowse link
G BACH2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr13:14,681,323...15,049,690
Ensembl chr13:14,687,188...14,763,706 		JBrowse link
G CAPN8 calpain 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr25:5,936,582...6,030,929 JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr15:77,435,195...77,439,164
Ensembl chr15:77,437,265...77,438,347 		JBrowse link
G CD14 CD14 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: RGD PMID:18728522 RGD:2314152 NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr22:61,258,281...61,294,772 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3
DNA:SNPs,haplotype: :rs231770,rs231775(human)		 ClinVar
RGD
OMIM		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... RGD:11344917 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:24,540,401...24,543,456
Ensembl chr 7:24,541,767...24,542,832 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 1:119,588,476...119,736,623
Ensembl chr 1:119,588,448...119,652,299 		JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:2,466,492...2,475,579 JBrowse link
G ICOS inducible T cell costimulator susceptibility ISO DNA:SNP,haplotype: :rs10932037(human) RGD PMID:19020530 RGD:11344917 NCBI chr10:89,706,755...89,732,600
Ensembl chr10:89,726,489...89,732,944 		JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 2:87,974,651...87,986,867
Ensembl chr 2:87,973,786...87,986,639 		JBrowse link
G IFI27 interferon alpha inducible protein 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr24:71,884,130...71,890,813 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:26440733 PMID:30097691 RGD:14974259 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IL10 interleukin 10 ISO RGD PMID:27545437 RGD:14975156 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL15 interleukin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23269601 NCBI chr 7:88,548,773...88,644,977
Ensembl chr 7:88,548,671...88,645,488 		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 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025 		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 chr20:65,853,379...65,946,000
Ensembl chr20:65,854,349...65,938,024 		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 chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870 		JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:18,009,049...18,038,315
Ensembl chr 8:18,009,093...18,038,598 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 7:101,297,114...101,304,675
Ensembl chr 7:101,297,691...101,302,520 		JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chr17:38,996,329...39,007,097 JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:polymorphisms (human)
associated with Thyroiditis, Autoimmune;DNA:polymorphism (human)
associated with Down Syndrome;DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism		 OMIM
RGD
CTD		 PMID:11426458 PMID:11713456 PMID:18509540 PMID:19494267 RGD:5147789 RGD:5147791 RGD:5147808 RGD:5147854 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:94,243,061...94,261,035
Ensembl chr 1:94,243,875...94,259,591 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264 		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 chr 6:15,571,276...15,707,571
Ensembl chr 6:15,596,583...15,707,567 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:6,550,806...6,556,499
Ensembl chr 2:6,549,652...6,556,478 		JBrowse link
G PIWIL2 piwi like RNA-mediated gene silencing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 8:20,347,998...20,436,016
Ensembl chr 8:20,352,771...20,433,947 		JBrowse link
G PON1 paraoxonase 1 ISO mRNA:decreased expression:duodenum RGD PMID:17664137 RGD:5509924 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		JBrowse link
G PON3 paraoxonase 3 ISO mRNA:decreased expression:duodenum RGD PMID:17664137 RGD:5509924 NCBI chr21:53,645,406...53,675,066
Ensembl chr21:53,645,384...53,674,812 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307 		JBrowse link
G S100A9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:10,391,965...10,395,216
Ensembl chr20:10,391,934...10,394,720 		JBrowse link
G SLC6A14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691
G SOAT2 sterol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr11:49,214,295...49,228,268
Ensembl chr11:49,215,034...49,228,244 		JBrowse link
G TFF1 trefoil factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795 		JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:increased expression:duodenum: RGD PMID:15054143 RGD:11062102 NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584 		JBrowse link
G TGM2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17190764 NCBI chr 2:25,585,827...25,623,961
Ensembl chr 2:25,585,865...25,624,280 		JBrowse link
G THEMIS thymocyte selection associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr13:45,665,494...45,886,672
Ensembl chr13:45,682,663...45,884,856 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr20:128,992,572...128,999,829
Ensembl chr20:128,992,489...129,000,338 		JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr20:123,808,289...123,839,957
Ensembl chr20:123,820,342...123,838,987 		JBrowse link
G UBD ubiquitin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr17:43,061,243...43,065,135
Ensembl chr17:43,061,826...43,064,869 		JBrowse link
G UPB1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chr19:7,605,999...7,639,339
Ensembl chr19:7,605,537...7,639,017 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chr 9:52,150,810...52,414,793
Ensembl chr 9:52,148,075...52,259,728 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15272
    syndrome 9980
      Malabsorption Syndromes 202
        celiac disease 49
          refractory celiac disease 0
Path 2
Term Annotations click to browse term
  disease 15272
    disease of anatomical entity 14892
      Immune & Inflammatory Diseases 4944
        immune system disease 4303
          primary immunodeficiency disease 3708
            autoimmune disease 1982
              autoimmune disease of gastrointestinal tract 254
                celiac disease 49
                  refractory celiac disease 0
paths to the root