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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 chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192 		JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624784:12,244,565...12,246,790
Ensembl chrNW_004624784:12,244,646...12,246,790 		JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624791:12,906,908...13,059,033
Ensembl chrNW_004624791:12,907,485...13,059,005 		JBrowse link
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chrNW_004624799:3,893,548...4,262,344
Ensembl chrNW_004624799:3,984,546...4,256,898 		JBrowse link
G Capn8 calpain 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624835:5,665,473...5,697,975 JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chrNW_004624788:10,965,226...10,974,215
Ensembl chrNW_004624788:10,966,207...10,971,180 		JBrowse link
G Cd14 CD14 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: RGD PMID:18728522 RGD:2314152 NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333 		JBrowse link
G Cd80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chrNW_004624731:28,630,540...28,655,297
Ensembl chrNW_004624731:28,630,446...28,651,994 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNPs,haplotype: :rs231770,rs231775(human)
ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3		 OMIM
RGD
ClinVar		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... RGD:11344917 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910 		JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624757:14,952,966...14,954,343
Ensembl chrNW_004624757:14,952,851...14,954,905 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893 		JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chrNW_004624812:2,795,961...2,920,263
Ensembl chrNW_004624812:2,795,686...2,920,274 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:23556408 RGD:7387257 NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958 		JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624826:51,387...59,117 JBrowse link
G Gbp5 guanylate binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624742:8,324,902...8,335,965 JBrowse link
G Icos inducible T cell costimulator susceptibility ISO DNA:SNP,haplotype: :rs10932037(human) RGD PMID:19020530 RGD:11344917 NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861 		JBrowse link
G Icoslg inducible T cell costimulator ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chrNW_004624745:29,880,943...29,888,635
Ensembl chrNW_004624745:29,880,992...29,888,717 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:26440733 PMID:30097691 RGD:14974259 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:27545437 RGD:14975156 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il15 interleukin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23269601 NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941 		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 chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304 		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 chrNW_004624742:27,899,934...27,954,145
Ensembl chrNW_004624742:27,901,071...27,941,109 		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 chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G LOC101697345 HLA class II histocompatibility antigen, DP beta 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chrNW_004624754:23,661,031...23,672,549
Ensembl chrNW_004624754:23,658,339...23,672,663 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphism (human) OMIM
RGD		 PMID:17919990 RGD:5147625 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624758:15,652,553...15,680,107
Ensembl chrNW_004624758:15,651,992...15,680,762 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624853:2,936,426...2,941,993
Ensembl chrNW_004624853:2,936,109...2,945,101 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624878:6,017...17,368
Ensembl chrNW_004624878:6,035...17,445 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075 		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 chrNW_004624908:689,373...751,851
Ensembl chrNW_004624908:690,153...740,502 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624741:23,985,257...23,990,354
Ensembl chrNW_004624741:23,985,675...23,989,790 		JBrowse link
G Piwil2 piwi like RNA-mediated gene silencing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624758:17,834,268...17,911,886
Ensembl chrNW_004624758:17,834,191...17,902,575 		JBrowse link
G Pon1 paraoxonase 1 ISO mRNA:decreased expression:duodenum RGD PMID:17664137 RGD:5509924 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Pon3 paraoxonase 3 ISO mRNA:decreased expression:duodenum RGD PMID:17664137 RGD:5509924 NCBI chrNW_004624813:2,023,025...2,051,319
Ensembl chrNW_004624813:2,022,482...2,051,330 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chrNW_004624764:9,192,067...9,218,617
Ensembl chrNW_004624764:9,191,556...9,248,252 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624885:767,455...770,023
Ensembl chrNW_004624885:762,934...770,129 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624895:46,289...83,412 JBrowse link
G Soat2 sterol O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624904:1,160,275...1,170,249
Ensembl chrNW_004624904:1,160,203...1,170,935 		JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:duodenum: RGD PMID:15054143 RGD:11062102 NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550 		JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17190764 NCBI chrNW_004624842:1,491,583...1,522,293
Ensembl chrNW_004624842:1,491,584...1,522,287 		JBrowse link
G Themis thymocyte selection associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chrNW_004624753:2,214,779...2,292,936 JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chrNW_004624818:7,491,473...7,505,185 JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624818:3,924,883...3,934,343
Ensembl chrNW_004624818:3,925,626...3,934,046 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624747:9,911,323...9,940,770
Ensembl chrNW_004624747:9,911,448...9,940,537 		JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30097691 NCBI chrNW_004624753:6,869,269...6,892,217
Ensembl chrNW_004624753:6,867,953...6,892,186 		JBrowse link
G Zmiz1 zinc finger MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190752 NCBI chrNW_004624754:12,106,828...12,299,188
Ensembl chrNW_004624754:12,145,570...12,299,318 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    syndrome 9755
      Malabsorption Syndromes 187
        celiac disease 49
          refractory celiac disease 0
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      Immune & Inflammatory Diseases 4775
        immune system disease 4278
          primary immunodeficiency disease 3754
            autoimmune disease 1902
              autoimmune disease of gastrointestinal tract 247
                celiac disease 49
                  refractory celiac disease 0
paths to the root