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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 IAGP
EXP		 ClinVar Annotator: match by term: Barrett esophagus
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma		 OMIM
ClinVar
CTD		 PMID:21791690 PMID:25741868 PMID:28492532 NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134 		JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 IDA DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 6:70,856,679...70,957,060
Ensembl chr 6:70,856,679...70,957,060 		JBrowse link
G BECN1 beclin 1 disease_progression ISO
IEP		 RGD PMID:22301112 PMID:22301112 RGD:11561943, RGD:11561943 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350 		JBrowse link
G BMP4 bone morphogenetic protein 4 IEP
ISO		 protein:increased expression:esophagus: RGD PMID:17570215 PMID:17570215 RGD:8699511, RGD:8699511 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CDH13 cadherin 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr16:82,626,969...83,800,640
Ensembl chr16:82,626,965...83,800,640 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397 		JBrowse link
G CDX2 caudal type homeobox 2 disease_progression IEP RGD PMID:23011828 RGD:7349348 NCBI chr13:27,960,918...27,969,315
Ensembl chr13:27,960,918...27,969,315 		JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma		 OMIM
CTD
ClinVar		 PMID:21791690 NCBI chr 8:103,371,538...103,382,989
Ensembl chr 8:103,371,538...103,382,989 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr10:93,073,475...93,077,885
Ensembl chr10:93,073,475...93,077,885 		JBrowse link
G FAS Fas cell surface death receptor severity IEP RGD PMID:10821489 RGD:12903968 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FOXP1 forkhead box P1 IAGP DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G GAST gastrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr17:41,712,331...41,715,969
Ensembl chr17:41,712,331...41,715,969 		JBrowse link
G GATA6 GATA binding protein 6 disease_progression IEP protein:increased expression: esophagus squamous epithelium (human) RGD PMID:25445407 RGD:13208870 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GPX3 glutathione peroxidase 3 IDA DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G GPX7 glutathione peroxidase 7 IDA DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 1:52,602,371...52,609,051
Ensembl chr 1:52,602,371...52,609,051 		JBrowse link
G HGF hepatocyte growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP associated with Aneuploidy; protein:increased expression:serum: RGD PMID:18006928 RGD:12743582 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member EXP CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 1:150,574,558...150,579,610
Ensembl chr 1:150,560,895...150,579,738 		JBrowse link
G MIR145 microRNA 145 HEP miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733 		JBrowse link
G MIR181A1 microRNA 181a-1 HEP miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 1:198,859,044...198,859,153
Ensembl chr 1:198,859,044...198,859,153 		JBrowse link
G MIR192 microRNA 192 HDA DNA:hypomethylation RGD PMID:29906417 RGD:153344526 NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246 		JBrowse link
G MIR194-2 microRNA 194-2 HDA DNA:hypomethylation RGD PMID:29906417 RGD:153344526 NCBI chr11:64,891,355...64,891,439
Ensembl chr11:64,891,355...64,891,439 		JBrowse link
G MIR196A2 microRNA 196a-2 HEP miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr12:53,991,738...53,991,847
Ensembl chr12:53,991,738...53,991,847 		JBrowse link
G MIR199A1 microRNA 199a-1 HEP miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr19:10,817,426...10,817,496
Ensembl chr19:10,817,426...10,817,496 		JBrowse link
G MIR199B microRNA 199b HEP miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 9:128,244,721...128,244,830
Ensembl chr 9:128,244,721...128,244,830 		JBrowse link
G MIR215 microRNA 215 HEP miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 1:220,117,853...220,117,962
Ensembl chr 1:220,117,853...220,117,962 		JBrowse link
G MIR223 microRNA 223 disease_progression IEP RGD PMID:23757351 RGD:21408587 NCBI chr  X:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979 		JBrowse link
G MIR30A microRNA 30a HEP miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621 		JBrowse link
G MKI67 marker of proliferation Ki-67 severity IEP RGD PMID:22147251 RGD:6483521 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP DNA:insertion:promoter:g.-1607insG (rs1799750) (human) RGD PMID:19321798 RGD:7207058 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP12 matrix metallopeptidase 12 IAGP DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982 		JBrowse link
G MSR1 macrophage scavenger receptor 1 IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Barrett's esophagus
ClinVar Annotator: match by term: Barrett esophagus
ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma		 OMIM
CTD
ClinVar		 PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr 8:16,107,881...16,192,651
Ensembl chr 8:16,107,878...16,567,490 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming disease_progression IEP RGD PMID:23011828 RGD:7349348 NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,487 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PTGES prostaglandin E synthase ISO mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO
EXP
IEP		 CTD Direct Evidence: marker/mechanism
mRNA: increased expression: Esophagus		 CTD
RGD		 PMID:11059772 PMID:15387324 PMID:17244951 PMID:17675820 PMID:12105834 More... RGD:1642603, RGD:13207438, RGD:7349348 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr 2:153,477,338...153,478,762
Ensembl chr 2:153,477,338...153,478,762 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SST somatostatin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr 3:187,668,912...187,670,394
Ensembl chr 3:187,668,912...187,670,394 		JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G ZNF793 zinc finger protein 793 IDA DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr19:37,506,428...37,543,333
Ensembl chr19:37,506,939...37,548,762 		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 IAGP
EXP		 ClinVar Annotator: match by term: Mungan syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      gastrointestinal system disease 16381
        esophageal disease 1215
          Barrett's esophagus 127
            Mungan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 97387
    Developmental Disease 35248
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28731
        Congenital Abnormalities 15093
          Digestive System Abnormalities 918
            Barrett's esophagus 127
              Mungan Syndrome 1
paths to the root