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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_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239
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_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
JBrowse link
G Barx1 BARX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chrNW_004955515:4,230,713...4,234,189
Ensembl chrNW_004955515:4,229,783...4,234,191
JBrowse link
G Bcl2 BCL2 apoptosis regulator onset ISO DNA:SNPs:3'utr: (rs720321, rs17757541) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Becn1 beclin 1 ISO RGD PMID:22301112 RGD:11561943 NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730
JBrowse link
G Birc3 baculoviral IAP repeat containing 3 treatment ISO RGD PMID:26291056 RGD:152999007 NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410
JBrowse link
G Casp8 caspase 8 onset ISO DNA:SNP:5'utr: (rs1035142) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
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_004955437:9,990,613...10,032,034
Ensembl chrNW_004955437:9,990,613...10,032,034
JBrowse link
G Crtc1 CREB regulated transcription coactivator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chrNW_004955524:2,884,654...2,940,601
Ensembl chrNW_004955524:2,884,654...2,940,815
JBrowse link
G Ctsb cathepsin B ISO RGD PMID:9770500 RGD:734853 NCBI chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809
JBrowse link
G Dock2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004955408:22,630,375...23,059,832
Ensembl chrNW_004955408:22,630,364...23,059,899
JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004955460:6,044,827...6,580,770
Ensembl chrNW_004955460:6,044,725...6,581,269
JBrowse link
G Emx2 empty spiracles homeobox 2 ISO protein:decreased expression:esophagus (human) RGD PMID:31432154 RGD:153323302 NCBI chrNW_004955431:22,192,446...22,199,141
Ensembl chrNW_004955431:22,192,446...22,199,279
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_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
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_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Foxa1 forkhead box A1 ISO protein:increased expression:esophagus RGD PMID:12234996 RGD:151665758 NCBI chrNW_004955409:23,598,127...23,599,827
Ensembl chrNW_004955409:23,598,127...23,599,461
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_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide onset ISO DNA:SNP:5'utr: (rs696217) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
JBrowse link
G Gpx3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs:intron: (rs4958872, rs3792797) (human) RGD PMID:22715394 RGD:152995500 NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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_004955451:14,463,032...14,470,392
Ensembl chrNW_004955451:14,464,541...14,474,070
JBrowse link
G Kdr kinase insert domain receptor onset ISO DNA:SNP:5'utr: (rs11941492) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial treatment ISO mRNA:increased expression:esophagus (human) RGD PMID:30187205 RGD:151665176 NCBI chrNW_004955445:4,874,583...4,891,723
Ensembl chrNW_004955445:4,873,942...4,891,780
JBrowse link
G LOC102023780 aromatase onset ISO DNA:SNP:5'utr: (rs2445762) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262
JBrowse link
G Mmp14 matrix metallopeptidase 14 onset ISO DNA:SNP:5'utr: (rs2236302) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:esophagus RGD PMID:25562781 RGD:13204790 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Nell1 neural EGFL like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452981 NCBI chrNW_004955476:1,445,234...2,236,954
Ensembl chrNW_004955476:1,445,353...2,233,146
JBrowse link
G Nos3 nitric oxide synthase 3 onset ISO DNA:SNP:3'utr: (rs2070744) (human) RGD PMID:21472143 RGD:126925218 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO mRNA,protein:increased expression:Esophagus RGD PMID:22165968 RGD:5687745 NCBI chrNW_004955419:5,678,750...5,699,305
Ensembl chrNW_004955419:5,678,694...5,699,305
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_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Slc22a18 solute carrier family 22 member 18 disease_progression ISO DNA:hypermethylation: (human) RGD PMID:23243219 RGD:150557426 NCBI chrNW_004955422:14,590,588...14,615,898
Ensembl chrNW_004955422:14,592,250...14,616,890
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 PMID:24952744 NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:17785574 RGD:2317403 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Spart spartin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004955431:9,758,159...9,786,468
Ensembl chrNW_004955431:9,758,053...9,786,644
JBrowse link
G Tlr4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Vdr vitamin D receptor disease_progression
susceptibility
ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:24951052 PMID:25910066 RGD:11055189 RGD:13432070 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
JBrowse link
G Gpx7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chrNW_004955464:6,560,198...6,566,763
Ensembl chrNW_004955464:6,558,336...6,566,763
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      gastrointestinal system disease 5961
        esophageal disease 452
          Esophageal Neoplasms 260
            esophagus adenocarcinoma 40
              Barrett's adenocarcinoma 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      gastrointestinal system disease 5961
        Digestive System Neoplasms 3393
          Gastrointestinal Neoplasms 3283
            Esophageal Neoplasms 260
              esophageal cancer 220
                esophageal carcinoma 206
                  esophagus adenocarcinoma 40
                    Barrett's adenocarcinoma 2
paths to the root