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
Accession: DOID:9206
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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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:25741868 PMID:28492532 More...
NCBI chr 8:39,996,284...40,095,790
Ensembl chr 8:40,034,726...40,095,714
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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
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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
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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
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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
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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 PMID:12105834 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
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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
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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
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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
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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
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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
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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
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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
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