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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 chr14:74,975,163...75,109,283
Ensembl chr14:74,975,165...75,083,634 		JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 1:50,941,967...51,041,586
Ensembl chr 1:50,938,251...51,041,583 		JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:22301112 RGD:11561943 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:esophagus: RGD PMID:17570215 RGD:8699511 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G CDH13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr 6:4,809,752...5,832,188
Ensembl chr 6:4,808,255...5,832,415 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761 		JBrowse link
G CDX2 caudal type homeobox 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr11:5,339,727...5,346,081
Ensembl chr11:5,339,716...5,346,057 		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 4:33,759,541...33,771,625
Ensembl chr 4:33,759,542...33,771,582 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr14:104,561,394...104,567,099
Ensembl chr14:104,563,195...104,567,095 		JBrowse link
G FAS Fas cell surface death receptor severity ISO RGD PMID:10821489 RGD:12903968 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FOXP1 forkhead box P1 ISO DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892 		JBrowse link
G GAST gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr12:20,953,202...20,955,434
Ensembl chr12:20,953,202...20,955,434 		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 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G GPX7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 6:159,590,479...159,598,768
Ensembl chr 6:159,590,482...159,599,293 		JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		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 chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 4:98,562,092...98,567,014
Ensembl chr 4:98,534,812...98,567,006 		JBrowse link
G MIR145 microRNA mir-145 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211 		JBrowse link
G MIR181A-1 microRNA mir-181a-1 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr10:21,696,653...21,696,756
Ensembl chr10:21,696,653...21,696,756 		JBrowse link
G MIR196A-2 microRNA mir-196a-2 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 5:19,204,442...19,204,548
Ensembl chr 5:19,204,442...19,204,548 		JBrowse link
G MIR199A-2 microRNA mir-199a-2 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 2:69,558,051...69,558,130
Ensembl chr 2:69,558,050...69,558,131 		JBrowse link
G MIR199B microRNA mir-199b ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 1:268,691,520...268,691,593
Ensembl chr 1:268,691,502...268,691,610 		JBrowse link
G MIR30A microRNA mir-30a ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933 		JBrowse link
G MKI67 marker of proliferation Ki-67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG (rs1799750) (human) RGD PMID:19321798 RGD:7207058 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679 		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 chr17:3,859,903...3,939,612
Ensembl chr17:3,859,692...3,939,726 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944 		JBrowse link
G PTGES prostaglandin E synthase ISO mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462 		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 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr15:61,140,687...61,143,397
Ensembl chr15:61,140,688...61,142,607 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 6:84,373,921...84,426,447
Ensembl chr 6:84,372,649...84,426,997 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr13:125,337,560...125,338,742
Ensembl chr13:125,337,418...125,338,850 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		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 4:21,772,821...21,802,453
Ensembl chr 4:21,772,855...21,802,715 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    disease of anatomical entity 15084
      gastrointestinal system disease 6548
        esophageal disease 485
          Barrett's esophagus 41
            Mungan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15390
    Developmental Disease 13423
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12510
        Congenital Abnormalities 7518
          Digestive System Abnormalities 507
            Barrett's esophagus 41
              Mungan Syndrome 1
paths to the root