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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:Barrett's esophagus
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Accession:DOID:9206 term browser browse the term
Definition:An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. (DO)
Synonyms:exact_synonym: Barrett epithelium;   Barrett esophagus;   Barrett metaplasia;   Barrett syndrome;   Barrett's Syndrome;   Barrett's esophagus with esophagitis;   Barrett's oesophagus;   Barrett's ulcer of esophagus;   Barretts Esophagus;   Barretts syndrome;   ulcerative esophagitis
 narrow_synonym: BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA;   BARRETT METAPLASIA ADENOCARCINOMA OF ESOPHAGUS
 primary_id: MESH:D001471
 alt_id: MIM:614266
 xref: EFO:0000280;   GARD:20;   ICD10CM:K22.7;   ICD9CM:530.85;   NCI:C2891

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Barrett's esophagus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCC1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar		 PMID:21791690 PMID:25741868 PMID:28492532 NCBI chr 9:59,095,335...59,205,646
Ensembl chr 9:59,097,501...59,204,874 		JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr17:4,080,648...4,150,371
Ensembl chr17:4,081,403...4,149,335 		JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:22301112 RGD:11561943 NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:esophagus: RGD PMID:17570215 RGD:8699511 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G CDH13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr 5:68,048,655...69,213,102
Ensembl chr 5:68,451,894...69,211,534 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342 		JBrowse link
G CDX2 caudal type homeobox 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr 3:7,080,142...7,088,010
Ensembl chr 3:7,078,503...7,087,285 		JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar		 PMID:21791690 NCBI chr 8:98,227,661...98,239,984
Ensembl chr 8:98,227,705...98,240,753 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G FOXP1 forkhead box P1 ISO DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502 		JBrowse link
G GAST gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr16:64,526,548...64,532,145
Ensembl chr16:64,526,636...64,527,080 		JBrowse link
G GATA6 GATA binding protein 6 disease_progression ISO protein:increased expression: esophagus squamous epithelium (human) RGD PMID:25445407 RGD:13208870 NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr23:53,576,950...53,585,321 JBrowse link
G GPX7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr20:80,335,248...80,342,687
Ensembl chr20:80,335,033...80,342,124 		JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO associated with Aneuploidy; protein:increased expression:serum: RGD PMID:18006928 RGD:12743582 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205 		JBrowse link
G LOC103216270 cytochrome P450 26A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr 9:86,310,142...86,328,622
Ensembl chr 9:86,325,401...86,328,775 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259
G MKI67 marker of proliferation Ki-67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG (rs1799750) (human) RGD PMID:19321798 RGD:7207058 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 1:94,243,061...94,261,035
Ensembl chr 1:94,243,875...94,259,591 		JBrowse link
G MSR1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma | ClinVar Annotator: match by term: Barrett's esophagus OMIM
ClinVar		 PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr 8:14,221,389...14,305,059
Ensembl chr 8:14,220,529...14,304,946 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr 1:893,554...926,854 JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr22:61,005,404...61,043,016
Ensembl chr22:61,006,667...61,040,832 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418 		JBrowse link
G PTGES prostaglandin E synthase ISO mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr12:8,393,462...8,408,441
Ensembl chr12:8,393,550...8,408,435 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO mRNA: increased expression: Esophagus
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11059772 PMID:12105834 PMID:15387324 PMID:17244951 PMID:17675820 More... RGD:13207438 RGD:1642603 RGD:7349348 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516 		JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr10:38,863,940...38,865,912
Ensembl chr10:38,864,844...38,865,170 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr20:105,613,289...105,670,868
Ensembl chr20:105,613,338...105,674,208 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr15:81,946,287...81,947,775
Ensembl chr15:81,946,206...81,947,790 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
G ZNF793 zinc finger protein 793 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 6:32,165,455...32,224,056
Ensembl chr 6:32,217,307...32,222,748 		JBrowse link
Mungan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Mungan syndrome OMIM
ClinVar		 PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532 NCBI chr 8:111,486,356...111,515,641
Ensembl chr 8:111,486,048...111,507,729 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      gastrointestinal system disease 6449
        esophageal disease 473
          Barrett's esophagus 35
            Mungan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12573
        Congenital Abnormalities 7567
          Digestive System Abnormalities 502
            Barrett's esophagus 35
              Mungan Syndrome 1
paths to the root