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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 chr10:68,646,113...68,740,097
Ensembl chr10:71,082,355...71,207,096 		JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 6:68,691,690...68,790,992 JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:22301112 RGD:11561943 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:esophagus: RGD PMID:17570215 RGD:8699511 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G CDH13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		JBrowse link
G CDX2 caudal type homeobox 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr13:9,241,856...9,250,297
Ensembl chr13:27,586,340...27,593,632 		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 8:100,027,417...100,038,945
Ensembl chr 8:102,182,944...102,194,445 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr10:89,817,623...89,822,024
Ensembl chr10:93,330,460...93,334,105 		JBrowse link
G FAS Fas cell surface death receptor severity ISO RGD PMID:10821489 RGD:12903968 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FOXP1 forkhead box P1 ISO DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173 		JBrowse link
G GAST gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr17:15,597,741...15,602,724
Ensembl chr17:15,816,656...15,820,296 		JBrowse link
G GATA6 GATA binding protein 6 disease_progression ISO protein:increased expression: esophagus squamous epithelium (human) RGD PMID:25445407 RGD:13208870 NCBI chr18:15,411,764...15,444,402 JBrowse link
G GPX3 glutathione peroxidase 3 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 5:146,447,939...146,456,476 JBrowse link
G GPX7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 1:51,827,000...51,870,924
Ensembl chr 1:53,471,624...53,477,448 		JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811 		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 chr 7:46,564,234...46,573,145 JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086 		JBrowse link
G MKI67 marker of proliferation Ki-67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG (rs1799750) (human) RGD PMID:19321798 RGD:7207058 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762 		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 chr 8:15,335,795...15,421,472
Ensembl chr 8:12,088,873...12,175,927 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr 3:116,901,579...116,940,366
Ensembl chr 3:123,815,135...123,853,129 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060 		JBrowse link
G PTGES prostaglandin E synthase ISO mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
mRNA: increased expression: Esophagus		 RGD
CTD		 PMID:11059772 PMID:12105834 PMID:15387324 PMID:17244951 PMID:17675820 More... RGD:13207438 RGD:1642603 RGD:7349348 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr2B:40,772,338...40,773,805
Ensembl chr2B:158,009,772...158,010,101 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192 		JBrowse link
G ZNF793 zinc finger protein 793 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr19:34,447,879...34,480,226
Ensembl chr19:42,282,849...42,325,557 		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 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      gastrointestinal system disease 6595
        esophageal disease 481
          Barrett's esophagus 36
            Mungan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15805
    Developmental Disease 13797
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12848
        Congenital Abnormalities 7711
          Digestive System Abnormalities 516
            Barrett's esophagus 36
              Mungan Syndrome 1
paths to the root