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
Accession: DOID:4914
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 .
GViewer not supported for the selected species.
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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