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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 chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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 chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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 chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G 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
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 chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Barrett's adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      gastrointestinal system disease 7174
        esophageal disease 500
          Esophageal Neoplasms 295
            esophagus adenocarcinoma 48
              Barrett's adenocarcinoma 3
Path 2
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      gastrointestinal system disease 7174
        Digestive System Neoplasms 3852
          Gastrointestinal Neoplasms 3728
            Esophageal Neoplasms 295
              esophageal cancer 249
                esophageal carcinoma 233
                  esophagus adenocarcinoma 48
                    Barrett's adenocarcinoma 3
paths to the root