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 .
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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 chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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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 chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Barx1
BARX homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121790
NCBI chr17:15,990,412...15,993,887
Ensembl chr17:15,990,412...15,993,887
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Bcl2
BCL2, apoptosis regulator
onset
ISO
DNA:SNPs:3'utr: (rs720321, rs17757541) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Becn1
beclin 1
IEP
RGD
PMID:22301112
RGD:11561943
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Birc3
baculoviral IAP repeat-containing 3
treatment
ISO
RGD
PMID:26291056
RGD:152999007
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Casp8
caspase 8
onset
ISO
DNA:SNP:5'utr: (rs1035142) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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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 chr 9:15,564,949...15,603,453
Ensembl chr 9:15,564,767...15,603,450
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Crtc1
CREB regulated transcription coactivator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121790
NCBI chr16:18,988,197...19,046,914
Ensembl chr16:18,988,250...19,043,381
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Ctsb
cathepsin B
ISO
RGD
PMID:9770500
RGD:734853
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
onset
ISO
DNA:SNP:5'utr: (rs2445762) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
treatment
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:30187205
RGD:151665176
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Dock2
dedicator of cytokinesis 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr10:18,827,237...19,244,832
Ensembl chr10:18,827,239...19,244,808
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Elmo1
engulfment and cell motility 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788
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Emx2
empty spiracles homeobox 2
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:31432154
RGD:153323302
NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594
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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 chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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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 chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Foxa1
forkhead box A1
ISO
protein:increased expression:esophagus
RGD
PMID:12234996
RGD:151665758
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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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 chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Ghrl
ghrelin and obestatin prepropeptide
onset
ISO
DNA:SNP:5'utr: (rs696217) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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Gpx3
glutathione peroxidase 3
susceptibility
ISO
DNA:SNPs:intron: (rs4958872, rs3792797) (human)
RGD
PMID:22715394
RGD:152995500
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Grb7
growth factor receptor bound protein 7
exacerbates treatment
ISO
human cells in a mouse model
RGD
PMID:32737994 PMID:31809243
RGD:151347656 , RGD:151347659
NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052
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Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion:: (human)
RGD
PMID:17064856
RGD:12792242
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
ISO
DNA:deletion:: (human)
RGD
PMID:17064856
RGD:12792242
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Kdr
kinase insert domain receptor
onset
ISO
DNA:SNP:5'utr: (rs11941492) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Mir21
microRNA 21
disease_progression
ISO
RGD
PMID:26481465
RGD:41404702
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mmp1
matrix metallopeptidase 1
susceptibility
ISO
DNA:insertion:promoter:g.-1607insG rs1799750 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp12
matrix metallopeptidase 12
ISO
DNA:snp:promoter:g.-82A>G rs2276109 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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Mmp14
matrix metallopeptidase 14
onset
ISO
DNA:SNP:5'utr: (rs2236302) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp3
matrix metallopeptidase 3
ISO
DNA:insertion:promoter:g.-1613insA rs3025058 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:esophagus
RGD
PMID:25562781
RGD:13204790
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nell1
neural EGFL like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17452981
NCBI chr 1:99,709,305...100,573,872
Ensembl chr 1:99,709,793...100,573,860
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Nos3
nitric oxide synthase 3
onset
ISO
DNA:SNP:3'utr: (rs2070744) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Ptgs1
prostaglandin-endoperoxide synthase 1
IEP
mRNA,protein:increased expression:Esophagus
RGD
PMID:22165968
RGD:5687745
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein: increased expression: esophagus
CTD RGD
PMID:12507933 PMID:12055587
RGD:13207437
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Slc22a18
solute carrier family 22, member 18
disease_progression
ISO
DNA:hypermethylation: (human)
RGD
PMID:23243219
RGD:150557426
NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975
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Smad4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077 PMID:24952744
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smo
smoothened, frizzled class receptor
treatment
IMP
RGD
PMID:23108119
RGD:150340553
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Sod2
superoxide dismutase 2
IDA
RGD
PMID:17785574
RGD:2317403
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Spart
spartin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnfrsf10b
TNF receptor superfamily member 10b
onset
ISO
DNA:SNP:3'utr: (rs11775256) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Vdr
vitamin D receptor
susceptibility disease_progression
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) DNA:amplication: :
RGD
PMID:25910066 PMID:24951052
RGD:11055189 , RGD:13432070
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Cyp26a1
cytochrome P450, family 26, subfamily a, polypeptide 1
ISO
RGD
PMID:18059332
RGD:13782259
NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204
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Gpx3
glutathione peroxidase 3
ISO
DNA:hypermethylation DNA:hypermethylation:promoter
RGD
PMID:16229808 PMID:18664505
RGD:151665354 , RGD:151665749
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gpx7
glutathione peroxidase 7
ISO
DNA:hypermethylation:promoter
RGD
PMID:18664505
RGD:151665749
NCBI chr 5:123,145,151...123,153,141
Ensembl chr 5:123,144,331...123,153,004
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