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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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21791690 PMID:25741868 PMID:28492532 NCBI chr10:59,838,414...59,935,812
Ensembl chr10:59,838,627...59,935,810
JBrowse link
G B3gat2 beta-1,3-glucuronyltransferase 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 1:23,801,007...23,886,946
Ensembl chr 1:23,800,834...23,888,239
JBrowse link
G Becn1 beclin 1, autophagy related disease_progression ISO RGD PMID:22301112 PMID:22301112 RGD:11561943, RGD:11561943 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:esophagus: RGD PMID:17570215 PMID:17570215 RGD:8699511, RGD:8699511 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
JBrowse link
G Cdh13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr 8:119,010,150...120,051,668
Ensembl chr 8:119,010,472...120,051,660
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
JBrowse link
G Cdx2 caudal type homeobox 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr 5:147,237,710...147,244,059
Ensembl chr 5:147,237,615...147,244,080
JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21791690 NCBI chr15:38,940,327...38,950,516
Ensembl chr15:38,940,327...38,950,516
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr19:37,686,186...37,689,984
Ensembl chr19:37,686,246...37,689,984
JBrowse link
G Fas Fas cell surface death receptor severity ISO RGD PMID:10821489 RGD:12903968 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Foxp1 forkhead box P1 ISO DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682
JBrowse link
G Gast gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr11:100,225,233...100,227,823
Ensembl chr11:100,225,233...100,227,822
JBrowse link
G Gata6 GATA binding protein 6 disease_progression ISO protein:increased expression: esophagus squamous epithelium (human) RGD PMID:25445407 RGD:13208870 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
JBrowse link
G Gpx7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 4:108,257,414...108,263,910
Ensembl chr 4:108,257,587...108,264,158
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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 chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
JBrowse link
G Mcl1 myeloid cell leukemia sequence 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487
JBrowse link
G Mir145a microRNA 145a ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965
JBrowse link
G Mir181a-1 microRNA 181a-1 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 1:137,894,193...137,894,279
Ensembl chr 1:137,894,193...137,894,279
JBrowse link
G Mir196a-2 microRNA 196a-2 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr15:102,881,785...102,881,869
Ensembl chr15:102,881,785...102,881,869
JBrowse link
G Mir199a-1 microRNA 199a-1 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 9:21,407,791...21,407,860
Ensembl chr 9:21,407,791...21,407,860
JBrowse link
G Mir199b microRNA 199b ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 2:32,208,472...32,208,581
Ensembl chr 2:32,208,472...32,208,581
JBrowse link
G Mir215 microRNA 215 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889
JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:23757351 RGD:21408587 NCBI chr  X:95,286,423...95,286,532
Ensembl chr  X:95,286,423...95,286,532
JBrowse link
G Mir30a microRNA 30a ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 1:23,311,350...23,311,420
Ensembl chr 1:23,311,350...23,311,420
JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO DNA:insertion:promoter:g.-1607insG (rs1799750) (human) RGD PMID:19321798 RGD:7207058 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr 8:39,996,284...40,095,790
Ensembl chr 8:40,034,726...40,095,714
JBrowse link
G Muc2 mucin 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr16:38,068,711...38,115,211
Ensembl chr16:38,068,685...38,115,186
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Ptges prostaglandin E synthase ISO mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr 2:30,779,483...30,793,309
Ensembl chr 2:30,779,483...30,819,875
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
mRNA: increased expression: Esophagus
CTD
RGD
PMID:11059772 PMID:15387324 PMID:17244951 PMID:17675820 PMID:23011828 More... RGD:1642603, RGD:7349348, RGD:13207438 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
JBrowse link
G Rprm reprimo, TP53 dependent G2 arrest mediator candidate ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr 2:53,974,105...53,975,564
Ensembl chr 2:53,974,105...53,975,564
JBrowse link
G Slc9a1 solute carrier family 9 (sodium/hydrogen exchanger), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr16:23,708,327...23,710,041
Ensembl chr16:23,708,323...23,709,708
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mungan syndrome
OMIM
CTD
ClinVar
PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532 NCBI chr15:51,826,000...51,856,934
Ensembl chr15:51,825,636...51,855,143
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16225
    disease of anatomical entity 15844
      gastrointestinal system disease 6870
        esophageal disease 513
          Barrett's esophagus 44
            Mungan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16225
    Developmental Disease 14002
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13025
        Congenital Abnormalities 7816
          Digestive System Abnormalities 535
            Barrett's esophagus 44
              Mungan Syndrome 1
paths to the root