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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:esophagus adenocarcinoma
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Accession:DOID:4914 term browser browse the term
Definition:An esophageal carcinoma that derives_from epithelial cells of glandular origin. (DO)
Synonyms:exact_synonym: adenocarcinoma of esophagus;   esophageal adenocarcinoma;   oesophageal adenocarcinoma
 primary_id: MESH:C562730
 xref: EFO:0000478;   NCI:C4025
For additional species annotation, visit the Alliance of Genome Resources.

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esophagus adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase onset ISO DNA:SNP:3'utr: (rs4740363) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004936487:17,690,206...17,819,619
Ensembl chrNW_004936487:17,690,968...17,819,669 		JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23525077 PMID:31906887 RGD:127285649 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Barx1 BARX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chrNW_004937000:88,529...96,794
Ensembl chrNW_004937000:88,529...92,147 		JBrowse link
G Bcl2 BCL2 apoptosis regulator onset ISO DNA:SNPs:3'utr: (rs720321, rs17757541) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921 		JBrowse link
G Becn1 beclin 1 ISO RGD PMID:22301112 RGD:11561943 NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151 		JBrowse link
G Birc3 baculoviral IAP repeat containing 3 treatment ISO RGD PMID:26291056 RGD:152999007 NCBI chrNW_004936551:5,544,047...5,556,550
Ensembl chrNW_004936551:5,544,065...5,556,555 		JBrowse link
G Casp8 caspase 8 onset ISO DNA:SNP:5'utr: (rs1035142) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922 		JBrowse link
G Cdc5l cell division cycle 5 like disease_progression ISO protein:increased expression:esophageal mucosa (human) RGD PMID:15725809 RGD:10047052 NCBI chrNW_004936476:15,647,470...15,698,095
Ensembl chrNW_004936476:15,648,678...15,698,106 		JBrowse link
G Crtc1 CREB regulated transcription coactivator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chrNW_004936596:2,551,621...2,625,327
Ensembl chrNW_004936596:2,551,506...2,625,327 		JBrowse link
G Dock2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004936609:4,695,202...5,099,038
Ensembl chrNW_004936609:4,695,628...5,099,038 		JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004936478:12,308,255...12,754,957
Ensembl chrNW_004936478:12,306,450...12,754,963 		JBrowse link
G Emx2 empty spiracles homeobox 2 ISO protein:decreased expression:esophagus (human) RGD PMID:31432154 RGD:153323302 NCBI chrNW_004936486:7,313,689...7,319,971
Ensembl chrNW_004936486:7,313,190...7,319,995 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human) RGD PMID:18478337 RGD:13207314 NCBI chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745 		JBrowse link
G Fas Fas cell surface death receptor ISO associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human) RGD PMID:10340890 RGD:8662425 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Foxa1 forkhead box A1 ISO protein:increased expression:esophagus RGD PMID:12234996 RGD:151665758 NCBI chrNW_004936494:11,529,546...11,535,224
Ensembl chrNW_004936494:11,529,546...11,535,224 		JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism
DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)		 CTD
RGD		 PMID:24121790 PMID:26383589 RGD:11535321 NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide onset ISO DNA:SNP:5'utr: (rs696217) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004936602:3,037,862...3,044,863
Ensembl chrNW_004936602:3,038,549...3,042,506 		JBrowse link
G Gpx3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs:intron: (rs4958872, rs3792797) (human) RGD PMID:22715394 RGD:152995500 NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498 		JBrowse link
G Grb7 growth factor receptor bound protein 7 treatment
exacerbates		 ISO human cells in a mouse model RGD PMID:31809243 PMID:32737994 RGD:151347656 RGD:151347659 NCBI chrNW_004936490:14,912,010...14,925,380
Ensembl chrNW_004936490:14,917,372...14,925,337 		JBrowse link
G Kdr kinase insert domain receptor onset ISO DNA:SNP:5'utr: (rs11941492) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002 		JBrowse link
G LOC101954950 aromatase onset ISO DNA:SNP:5'utr: (rs2445762) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910 		JBrowse link
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial treatment ISO mRNA:increased expression:esophagus (human) RGD PMID:30187205 RGD:151665176 NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185 		JBrowse link
G Mmp1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chrNW_004936551:5,107,567...5,117,843
Ensembl chrNW_004936551:5,106,285...5,117,843 		JBrowse link
G Mmp14 matrix metallopeptidase 14 onset ISO DNA:SNP:5'utr: (rs2236302) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004936722:1,447,189...1,457,632
Ensembl chrNW_004936722:1,447,335...1,457,611 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:esophagus RGD PMID:25562781 RGD:13204790 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Nell1 neural EGFL like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452981 NCBI chrNW_004936654:1,591,016...2,392,496
Ensembl chrNW_004936654:1,591,847...2,394,692 		JBrowse link
G Nos3 nitric oxide synthase 3 onset ISO DNA:SNP:3'utr: (rs2070744) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO mRNA,protein:increased expression:Esophagus RGD PMID:22165968 RGD:5687745 NCBI chrNW_004936487:10,745,465...10,758,812
Ensembl chrNW_004936487:10,745,327...10,758,823 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
protein: increased expression: esophagus		 CTD
RGD		 PMID:12055587 PMID:12507933 RGD:13207437 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Slc22a18 solute carrier family 22 member 18 disease_progression ISO DNA:hypermethylation: (human) RGD PMID:23243219 RGD:150557426 NCBI chrNW_004936794:1,042,103...1,061,347
Ensembl chrNW_004936794:1,042,224...1,061,345 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 PMID:24952744 NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123 		JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:17785574 RGD:2317403 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Spart spartin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004936472:30,467,975...30,525,880
Ensembl chrNW_004936472:30,467,964...30,504,624 		JBrowse link
G Tlr4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
G Vdr vitamin D receptor susceptibility
disease_progression		 ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:24951052 PMID:25910066 RGD:11055189 RGD:13432070 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
Barrett's adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx3 glutathione peroxidase 3 ISO DNA:hypermethylation
DNA:hypermethylation:promoter		 RGD PMID:16229808 PMID:18664505 RGD:151665354 RGD:151665749 NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498 		JBrowse link
G Gpx7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chrNW_004936522:8,381,678...8,388,800
Ensembl chrNW_004936522:8,381,377...8,389,357 		JBrowse link
G LOC101977861 cytochrome P450 26A1 ISO RGD PMID:18059332 RGD:13782259 NCBI chrNW_004936601:1,810,572...1,815,927
Ensembl chrNW_004936601:1,809,992...1,814,074 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      gastrointestinal system disease 6071
        esophageal disease 459
          Esophageal Neoplasms 264
            esophagus adenocarcinoma 41
              Barrett's adenocarcinoma 3
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      gastrointestinal system disease 6071
        Digestive System Neoplasms 3459
          Gastrointestinal Neoplasms 3342
            Esophageal Neoplasms 264
              esophageal cancer 222
                esophageal carcinoma 210
                  esophagus adenocarcinoma 41
                    Barrett's adenocarcinoma 3
paths to the root