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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


show annotations for term's descendants           Sort by:
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 4:22,779,644...22,876,434
Ensembl chr 4:22,779,781...22,874,215 		JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr12:33,321,691...33,400,516
Ensembl chr12:33,321,208...33,401,171 		JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:22301112 RGD:11561943 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:esophagus: RGD PMID:17570215 RGD:8699511 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CDH13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CDX2 caudal type homeobox 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr25:11,701,134...11,707,883
Ensembl chr25:11,700,779...11,707,127 		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 chr13:4,801,049...4,811,565
Ensembl chr13:4,805,577...4,811,282 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr28:7,423,955...7,432,359
Ensembl chr28:7,428,772...7,432,370 		JBrowse link
G FAS Fas cell surface death receptor severity ISO RGD PMID:10821489 RGD:12903968 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FOXP1 forkhead box P1 ISO DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397 		JBrowse link
G GAST gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 9:21,081,638...21,084,122
Ensembl chr 9:21,081,639...21,083,932 		JBrowse link
G GATA6 GATA binding protein 6 disease_progression ISO protein:increased expression: esophagus squamous epithelium (human) RGD PMID:25445407 RGD:13208870 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GPX3 glutathione peroxidase 3 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		JBrowse link
G GPX7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr15:8,777,626...8,784,409 JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263 		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 chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111 		JBrowse link
G MIR145 microRNA mir-145 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210 		JBrowse link
G MIR181A-1 microRNA mir-181a-1 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 7:4,055,465...4,055,526
Ensembl chr 7:4,055,465...4,055,526 		JBrowse link
G MIR196A-2 microRNA mir-196a-2 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr27:1,270,718...1,270,776
Ensembl chr27:1,270,691...1,270,800 		JBrowse link
G MIR199-1 microRNA mir-199-1 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr20:50,410,924...50,410,984
Ensembl chr20:50,410,913...50,410,994 		JBrowse link
G MIR199-3 microRNA mir-199-3 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 9:55,262,354...55,262,412
Ensembl chr 9:55,262,328...55,262,437 		JBrowse link
G MIR223 microRNA mir-223 disease_progression ISO RGD PMID:23757351 RGD:21408587 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233 		JBrowse link
G MIR30A microRNA mir-30a ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr12:33,783,894...33,783,956
Ensembl chr12:33,783,891...33,783,961 		JBrowse link
G MKI67 marker of proliferation Ki-67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG (rs1799750) (human) RGD PMID:19321798 RGD:7207058 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309 		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 chr16:39,434,948...39,513,727
Ensembl chr16:39,436,753...39,527,438 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr18:45,416,347...45,438,226 JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981 		JBrowse link
G PTGES prostaglandin E synthase ISO mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232 		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 chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882
G SLC9A1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr34:20,063,091...20,064,520
Ensembl chr34:20,063,090...20,064,557 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470 		JBrowse link
G ZNF793 zinc finger protein 793 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 1:115,830,999...115,866,294
Ensembl chr 1:115,844,904...115,854,520 		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 chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15722
    disease of anatomical entity 15368
      gastrointestinal system disease 6618
        esophageal disease 492
          Barrett's esophagus 43
            Mungan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15722
    Developmental Disease 13695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12737
        Congenital Abnormalities 7659
          Digestive System Abnormalities 530
            Barrett's esophagus 43
              Mungan Syndrome 1
paths to the root