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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:esophageal cancer
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Accession:DOID:5041 term browser browse the term
Definition:A gastrointestinal system cancer that is located_in the esophagus. (DO)
Synonyms:exact_synonym: Ca lower third oesophagus;   Ca middle third oesophagus;   esophagus cancer;   malignant neoplasm of distal third of esophagus;   malignant neoplasm of lower third of oesophagus;   malignant neoplasm of middle third of oesophagus;   malignant neoplasm of proximal third of esophagus;   malignant neoplasm of upper third esophagus;   malignant tumor of abdominal esophagus;   malignant tumor of distal third of esophagus;   malignant tumor of proximal third of esophagus;   malignant tumor of the middle third of the esophagus
 related_synonym: ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO
 primary_id: OMIM:133239
 xref: GARD:6383;   ICD10CM:C15.3;   ICD10CM:C15.4;   ICD10CM:C15.5;   ICD9CM:150.2;   ICD9CM:150.3;   ICD9CM:150.4;   ICD9CM:150.5;   ICD9CM:150.8;   NCI:C3028;   NCI:C3533;   NCI:C3534;   NCI:C3535;   NCI:C4764
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
esophageal cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH2 aldehyde dehydrogenase 2 family member IAGP ClinVar Annotator: match by term: Esophageal cancer, alcohol-related, susceptibility to ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:16046871 PMID:16440063 PMID:17885622 PMID:18056758 PMID:20010786 PMID:33355142 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Esophageal cancer ClinVar PMID:25741868 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO RGD PMID:9863006 RGD:2289811 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:20232121 RGD:5134997 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP RGD PMID:11833070, PMID:26782562 RGD:14700950, RGD:11554919 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G DCC DCC netrin 1 receptor IAGP OMIM NCBI chr18:52,340,172...53,535,899
Ensembl chr18:52,340,197...53,535,903
JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein IAGP ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 NCBI chr 3:38,038,595...38,124,025
Ensembl chr 3:38,039,205...38,124,025
JBrowse link
G FGF2 fibroblast growth factor 2 IEP RGD PMID:29660336 RGD:21409755 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:11833070, PMID:23749488, PMID:12406553, PMID:26782562 RGD:14700950, RGD:14700969, RGD:14700964, RGD:11554919 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP RGD PMID:23749488 RGD:14700969
G HMOX1 heme oxygenase 1 ISO protein:increased expression:esophagus RGD PMID:20498946 RGD:4145286 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G IL5 interleukin 5 treatment ISO RGD PMID:20232121 RGD:5134997 NCBI chr 5:132,539,194...132,556,864
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 IAGP esophageal squamous cell carcinoma, OMIM:133239 OMIM PMID:10097140 RGD:1600104 NCBI chr 8:20,246,165...20,303,963
Ensembl chr 8:20,246,165...20,303,963
JBrowse link
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Esophageal cancer ClinVar PMID:28492532 NCBI chr16:79,202,624...79,601,952
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G MIR155 microRNA 155 IEP RGD PMID:29660336 RGD:21409755 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MXI1 MAX interactor 1, dimerization protein ISO RGD PMID:10849326 RGD:1298988 NCBI chr10:110,207,605...110,287,365
Ensembl chr10:110,207,605...110,287,365
JBrowse link
G PTEN phosphatase and tensin homolog treatment IMP human gene and cells in a mouse model RGD PMID:20378992 RGD:127285592 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G RNF6 ring finger protein 6 IAGP OMIM NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Esophagus cancer
ClinVar Annotator: match by term: Esophageal cancer
OMIM
ClinVar
PMID:7664267 PMID:10789724 PMID:15235604 PMID:16928994 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18339844 PMID:19533785 PMID:21267002 PMID:22113417 PMID:24033266 PMID:25741868 PMID:27879313 PMID:28492532 PMID:28659821 PMID:29168297 PMID:30341550 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:8164043 PMID:8825920 PMID:9047394 PMID:11101847 PMID:12007217 PMID:12619118 PMID:12826609 PMID:15607980 PMID:15607981 PMID:15977174 PMID:16401470 PMID:16489069 PMID:17606709 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19405127 PMID:19881536 PMID:19930417 PMID:20128691 PMID:20516128 PMID:20689556 PMID:21305319 PMID:21343334 PMID:21761402 PMID:22006311 PMID:22233476 PMID:22698404 PMID:23161690 PMID:23263379 PMID:23713777 PMID:23792586 PMID:24033266 PMID:24573247 PMID:25157968 PMID:25741868 PMID:26534844 PMID:26619011 PMID:27153395 PMID:27374712 PMID:27516001 PMID:28349240 PMID:28492532 PMID:28873162 PMID:30816478 PMID:31775759 PMID:32000721 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Esophagus cancer
ClinVar Annotator: match by term: Esophageal cancer
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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 member 1 IEP RGD PMID:18059332 RGD:13782259 NCBI chr10:93,073,475...93,077,885
Ensembl chr10:93,073,475...93,077,885
JBrowse link
esophageal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:17972177 PMID:18431501 PMID:18627636 PMID:18779604 PMID:21120943 PMID:21218378 PMID:21523855 PMID:22126563 PMID:22293751 PMID:22486713 PMID:23555315 PMID:24055113 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26689913 PMID:28222693 PMID:28492532 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:25157968 PMID:26619011 PMID:26822237 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DCC DCC netrin 1 receptor IAGP ClinVar Annotator: match by term: Esophageal carcinoma, somatic ClinVar PMID:8187090 NCBI chr18:52,340,172...53,535,899
Ensembl chr18:52,340,197...53,535,903
JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:15623594 PMID:16205628 PMID:16707764 PMID:16863509 PMID:17653080 PMID:19147750 PMID:19536777 PMID:20522446 PMID:22753918 PMID:23102728 PMID:24033266 PMID:25157968 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EGFR-AS1 EGFR antisense RNA 1 IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:15623594 PMID:16205628 PMID:16707764 PMID:16863509 PMID:17653080 PMID:19147750 PMID:19536777 PMID:20522446 PMID:22753918 PMID:23102728 PMID:24033266 PMID:25157968 NCBI chr 7:55,179,750...55,188,949
Ensembl chr 7:55,179,750...55,188,934
JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:26619011 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:16397024 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 4:152,320,544...152,536,873
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G JAK2 Janus kinase 2 treatment IDA associated with Immune Deficiency Disease, human cells in mouse model RGD PMID:25724470 RGD:127285656 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:26619011 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:30543347 PMID:31775759 NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:26619011 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10797267 PMID:11274206 PMID:11583957 PMID:12116240 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18823382 PMID:20101697 PMID:22316667 PMID:22331366 PMID:25741868 PMID:26572829 PMID:26619011 PMID:26900293 PMID:27595937 PMID:28492532 PMID:32573726 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment IDA associated with Immune Deficiency Disease, human cells in mouse model RGD PMID:25724470 RGD:127285656 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2826609 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8164043 PMID:8242631 PMID:8336941 PMID:8364550 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9472631 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9667734 PMID:9825943 PMID:9839505 PMID:10229196 PMID:10411893 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12406399 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15982667 PMID:15993273 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18208484 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20195489 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21470402 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22847613 PMID:22862161 PMID:22866089 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22999923 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23538418 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24728327 PMID:24744791 PMID:24810334 PMID:24835218 PMID:24940547 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25587027 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26659639 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27149858 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27489289 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27730344 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28279309 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30297838 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31050713 PMID:31121848 PMID:31206626 PMID:31300551 PMID:31775759 PMID:32000721 PMID:32295079 PMID:32401780 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
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 IAGP DNA:SNP:3'utr: (rs4740363) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,016...130,887,675
JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression EXP
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:23525077, PMID:31906887 RGD:127285649 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G BARX1 BARX homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr 9:93,951,627...93,955,355
Ensembl chr 9:93,951,627...93,955,355
JBrowse link
G BCL2 BCL2 apoptosis regulator onset IAGP DNA:SNPs:3'utr: (rs720321, rs17757541) (human) RGD PMID:21472143 RGD:126925218 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BECN1 beclin 1 IEP RGD PMID:22301112 RGD:11561943 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G CASP8 caspase 8 onset IAGP DNA:SNP:5'utr: (rs1035142) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,287,711
JBrowse link
G CDC5L cell division cycle 5 like disease_progression IEP protein:increased expression:esophageal mucosa (human) RGD PMID:15725809 RGD:10047052 NCBI chr 6:44,387,706...44,450,425
Ensembl chr 6:44,387,706...44,450,425
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr19:18,683,621...18,782,333
Ensembl chr19:18,683,678...18,782,333
JBrowse link
G CTSB cathepsin B IEP RGD PMID:9770500 RGD:734853 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 onset IAGP DNA:SNP:5'utr: (rs2445762) (human) RGD PMID:21472143 RGD:126925218 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G DOCK2 dedicator of cytokinesis 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 5:169,637,247...170,083,382
Ensembl chr 5:169,637,268...170,083,382
JBrowse link
G ELMO1 engulfment and cell motility 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 7:36,852,906...37,449,326
Ensembl chr 7:36,852,906...37,449,223
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility IAGP DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human) RGD PMID:18478337 RGD:13207314 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G FAS Fas cell surface death receptor IEP associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human) RGD PMID:10340890 RGD:8662425 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FOXP1 forkhead box P1 IAGP
EXP
DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:24121790, PMID:26383589 RGD:11535321 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,708...71,583,989
JBrowse link
G GHRL ghrelin and obestatin prepropeptide onset IAGP DNA:SNP:5'utr: (rs696217) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP DNA:deletion:: (human) RGD PMID:17064856 RGD:12792242 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP DNA:deletion:: (human) RGD PMID:17064856 RGD:12792242
G KDR kinase insert domain receptor onset IAGP DNA:SNP:5'utr: (rs11941492) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G MIR21 microRNA 21 disease_progression IEP RGD PMID:26481465 RGD:41404702 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MMP1 matrix metallopeptidase 1 susceptibility IAGP DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP12 matrix metallopeptidase 12 IAGP DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
JBrowse link
G MMP14 matrix metallopeptidase 14 onset IAGP DNA:SNP:5'utr: (rs2236302) (human) RGD PMID:21472143 RGD:126925218 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
JBrowse link
G MMP3 matrix metallopeptidase 3 IAGP DNA:insertion:promoter:g.-1613insA rs3025058 (human) RGD PMID:19321798 RGD:7207058 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:esophagus RGD PMID:25562781 RGD:13204790 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NELL1 neural EGFL like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17452981 NCBI chr11:20,669,551...21,575,686
Ensembl chr11:20,669,551...21,575,686
JBrowse link
G NOS3 nitric oxide synthase 3 onset IAGP DNA:SNP:3'utr: (rs2070744) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO mRNA,protein:increased expression:Esophagus RGD PMID:22165968 RGD:5687745 NCBI chr 9:122,369,906...122,395,703
Ensembl chr 9:122,370,530...122,395,703
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression IEP
EXP
protein: increased expression: esophagus
CTD Direct Evidence: marker/mechanism
CTD PMID:12507933, PMID:12055587 RGD:13207437 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G SMAD4 SMAD family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23525077 PMID:24952744 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:17785574 RGD:2317403 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SPART spartin EXP CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G TLR4 toll like receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a onset IAGP DNA:SNP:3'utr: (rs11775256) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102
JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G VDR vitamin D receptor susceptibility
disease_progression
IAGP
IEP
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
DNA:amplication: :
RGD PMID:25910066, PMID:24951052, PMID:24951052 RGD:11055189, RGD:13432070, RGD:13432070 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
esophagus small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 ISO protein:increased expression:esophagus RGD PMID:16140947 RGD:1600174 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
esophagus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21206495 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr18:904,384...912,172
Ensembl chr18:904,871...912,172
JBrowse link
G ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:22960999 NCBI chr 4:99,304,971...99,321,401
Ensembl chr 4:99,304,971...99,352,760
JBrowse link
G AJUBA ajuba LIM protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr14:22,971,177...22,982,551
Ensembl chr14:22,971,177...22,982,551
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ANXA1 annexin A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
JBrowse link
G AZIN1 antizyme inhibitor 1 IMP RGD PMID:24302582 RGD:14700707 NCBI chr 8:102,826,302...102,864,200
Ensembl chr 8:102,826,111...102,893,864
JBrowse link
G B2M beta-2-microglobulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:44,711,492...44,718,145
Ensembl chr15:44,711,487...44,718,851
JBrowse link
G BLVRB biliverdin reductase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr19:40,447,768...40,465,745
Ensembl chr19:40,447,765...40,465,764
JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger IEP RGD PMID:21165554 RGD:126781701 NCBI chr10:22,321,099...22,331,484
Ensembl chr10:22,321,099...22,331,484
JBrowse link
G BMP6 bone morphogenetic protein 6 IEP protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BST2 bone marrow stromal cell antigen 2 disease_progression IEP RGD PMID:26832883 RGD:14398496 NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
JBrowse link
G CA1 carbonic anhydrase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:85,327,608...85,378,113
Ensembl chr 8:85,327,608...85,379,014
JBrowse link
G CA2 carbonic anhydrase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CALR calreticulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:112,619,775...112,671,616
Ensembl chr 1:112,619,805...112,671,616
JBrowse link
G CBX8 chromobox 8 severity IEP mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr17:79,792,132...79,797,077
Ensembl chr17:79,792,132...79,801,683
JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 6:31,142,439...31,158,209
Ensembl chr 6:31,142,439...31,158,238
JBrowse link
G CCND1 cyclin D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A EXP CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CFL1 cofilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
JBrowse link
G CLIC1 chloride intracellular channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:31,730,581...31,737,318
Ensembl chr 6:31,730,581...31,739,763
JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr15:78,340,353...78,348,225
Ensembl chr15:78,340,353...78,348,225
JBrowse link
G CREBBP CREB binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CSTB cystatin B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP RGD PMID:11860825 RGD:14700943 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11241319 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447
JBrowse link
G DCC DCC netrin 1 receptor IAGP DNA:deletions:multiple (human) RGD PMID:8187090 RGD:734879 NCBI chr18:52,340,172...53,535,899
Ensembl chr18:52,340,197...53,535,903
JBrowse link
G DIDO1 death inducer-obliterator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr20:62,877,743...62,937,933
Ensembl chr20:62,877,738...62,937,952
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression IEP protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,356
JBrowse link
G EGFR epidermal growth factor receptor severity IEP
EXP
IAGP
protein:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma
CTD
ClinVar
PMID:21947696 PMID:23485129 PMID:25157968, PMID:10385363 RGD:5131486 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 disease_progression IEP protein:increased expression:esophagus:
protein:increased expression:esophagus mucosa:
RGD PMID:24649311, PMID:24805087 RGD:9589143, RGD:9590071 NCBI chr 9:137,619,001...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression IEP protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,687
JBrowse link
G EP300 E1A binding protein p300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 susceptibility
disease_progression
IAGP
IEP
DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
protein:altered localization:nucleus
RGD PMID:24916311, PMID:18000820 RGD:126781764, RGD:126781765 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment IEP RGD PMID:23263828 RGD:11252162 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression IEP RGD PMID:25613619, PMID:21165554 RGD:126781697, RGD:126781701 NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FANCA FA complementation group A IAGP DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FASN fatty acid synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr17:82,078,338...82,098,303
Ensembl chr17:82,078,338...82,098,294
JBrowse link
G FAT1 FAT atypical cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:186,587,789...186,726,696
Ensembl chr 4:186,587,794...186,726,722
JBrowse link
G FAT2 FAT atypical cadherin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 5:151,504,092...151,594,822
Ensembl chr 5:151,504,092...151,591,331
JBrowse link
G FAT3 FAT atypical cadherin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr11:92,224,636...92,896,473
Ensembl chr11:92,224,818...92,896,473
JBrowse link
G FAT4 FAT atypical cadherin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:125,314,918...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:152,320,544...152,536,873
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FKBP1A FKBP prolyl isomerase 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:1,368,977...1,393,172
Ensembl chr20:1,368,977...1,393,164
JBrowse link
G GDI2 GDP dissociation inhibitor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:5,765,222...5,813,434
Ensembl chr10:5,765,223...5,842,132
JBrowse link
G GLO1 glyoxalase I EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:38,675,925...38,703,145
Ensembl chr 6:38,675,925...38,703,145
JBrowse link
G GSTM1 glutathione S-transferase mu 1 no_association IAGP RGD PMID:11860825, PMID:17916905, PMID:25432134 RGD:14700943, RGD:14700982, RGD:14700948 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTO1 glutathione S-transferase omega 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:17173682, PMID:25432134, PMID:17916905 RGD:14700948, RGD:14700982
G H19 H19 imprinted maternally expressed transcript EXP CTD Direct Evidence: marker/mechanism CTD PMID:32739445 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,176...2,001,470
JBrowse link
G H2BC14 H2B clustered histone 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:27,815,022...27,815,489
Ensembl chr 6:27,815,022...27,815,489
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HMGB1 high mobility group box 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HMGN5 high mobility group nucleosome binding domain 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28914995 NCBI chr  X:81,113,699...81,201,913
Ensembl chr  X:81,113,699...81,201,913
JBrowse link
G HOXB7 homeobox B7 severity IEP protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr17:48,607,232...48,611,017
Ensembl chr17:48,607,232...48,633,572
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 severity IMP human cells in mouse model RGD PMID:32367071 RGD:149735568 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G JAK2 Janus kinase 2 severity IEP protein:increased phosphorylation:esophagus squamous epithelium (human) RGD PMID:32158193 RGD:127285669 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KAT2B lysine acetyltransferase 2B IEP mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr 3:20,040,407...20,154,404
Ensembl chr 3:20,040,446...20,154,404
JBrowse link
G KDM4C lysine demethylase 4C severity
susceptibility
IEP
IAGP
protein:increased expression:esophageal epithelium, nucleus (human)
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
RGD PMID:24224128, PMID:15805246 RGD:9587746, RGD:9587752 NCBI chr 9:6,720,863...7,175,648
Ensembl chr 9:6,720,863...7,175,648
JBrowse link
G KDM5B lysine demethylase 5B severity IEP protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr 1:202,724,495...202,809,470
Ensembl chr 1:202,724,495...202,808,487
JBrowse link
G KDM6A lysine demethylase 6A IAGP
EXP
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25151357, PMID:25151357 RGD:9588233 NCBI chr  X:44,873,182...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2C lysine methyltransferase 2C IAGP
EXP
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25151357, PMID:25151357 RGD:9588233 NCBI chr 7:152,134,925...152,436,642
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP
EXP
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25151357, PMID:25151357 RGD:9588233 NCBI chr12:49,018,975...49,060,884
Ensembl chr12:49,018,978...49,060,794
JBrowse link
G KRT13 keratin 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:41,500,981...41,505,612
Ensembl chr17:41,500,981...41,505,705
JBrowse link
G KRT14 keratin 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT16 keratin 16 ISO RGD PMID:8950218 RGD:633113 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
JBrowse link
G KRT17 keratin 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G KRT19 keratin 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:41,523,617...41,528,308
Ensembl chr17:41,523,617...41,528,308
JBrowse link
G LOXL2 lysyl oxidase like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr 8:23,296,897...23,404,120
Ensembl chr 8:23,296,897...23,425,328
JBrowse link
G LTA lymphotoxin alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 6:31,560,550...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 IAGP ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:10097140 NCBI chr 8:20,246,165...20,303,963
Ensembl chr 8:20,246,165...20,303,963
JBrowse link
G MAD2L1 mitotic arrest deficient 2 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 4:120,055,623...120,066,848
Ensembl chr 4:120,055,623...120,066,858
JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,688...65,506,516
JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility IAGP DNA:snp:cds:p.E346K (rs140693) (human)
DNA:snp:intron:IVS5-140A>G (rs3138355) (human)
RGD PMID:15205355, PMID:25162968 RGD:9588976, RGD:9588980 NCBI chr 3:129,430,947...129,440,029
Ensembl chr 3:129,430,947...129,440,179
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase disease_progression EXP
IDA
CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD PMID:25520135, PMID:21674174 RGD:126790574 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MIR217 microRNA 217 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr 2:55,982,967...55,983,076
Ensembl chr 2:55,982,967...55,983,076
JBrowse link
G MIR423 microRNA 423 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr17:30,117,079...30,117,172
Ensembl chr17:30,117,079...30,117,172
JBrowse link
G MLH1 mutL homolog 1 disease_progression IDA DNA, protein:hypermethylation, decreased expression:promoter, esophagus RGD PMID:21674174 RGD:126790574 NCBI chr 3:36,993,487...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MSH2 mutS homolog 2 disease_progression IDA DNA, protein:hypermethylation, decreased expression:promoter, esophagus
DNA, protein:hypermethylation, decreased expression:esophagus
RGD PMID:22265839, PMID:21674174, PMID:24366688 RGD:126790560, RGD:126790574, RGD:126790573 NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MT1X metallothionein 1X ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NOTCH1 notch receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NOTCH2 notch receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G NOTCH3 notch receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G PFN1 profilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
JBrowse link
G PLCE1 phospholipase C epsilon 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
JBrowse link
G PRDX1 peroxiredoxin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 disease_progression IEP RGD PMID:19492245 RGD:6482249 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851
JBrowse link
G PSME1 proteasome activator subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr14:24,136,194...24,138,962
Ensembl chr14:24,136,163...24,138,967
JBrowse link
G PSME2 proteasome activator subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr14:24,143,365...24,146,646
Ensembl chr14:24,143,362...24,147,570
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RB1 RB transcriptional corepressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RNF6 ring finger protein 6 IAGP ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:12154016 NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP DNA:SNP: :rs2014300 (human) RGD PMID:30666517 RGD:126775149 NCBI chr21:34,787,801...35,049,334
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G RUNX2 RUNX family transcription factor 2 IEP mRNA:increased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G RUNX3 RUNX family transcription factor 3 disease_progression IEP mRNA:decreased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G SALL4 spalt like transcription factor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SERPINB3 serpin family B member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr18:63,655,197...63,661,893
Ensembl chr18:63,655,197...63,661,893
JBrowse link
G SFN stratifin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:26,863,149...26,864,456
Ensembl chr 1:26,863,149...26,864,456
JBrowse link
G SLC39A6 solute carrier family 39 member 6 EXP CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr18:36,108,531...36,129,868
Ensembl chr18:36,108,531...36,129,385
JBrowse link
G SLC52A3 solute carrier family 52 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr20:760,080...775,985
Ensembl chr20:760,080...776,015
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SOX2 SRY-box transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G SULT1A1 sulfotransferase family 1A member 1 IAGP DNA:SNP:exon:p.R213H, 638G>A (human) RGD PMID:12455060 RGD:1581448 NCBI chr16:28,605,258...28,623,395
Ensembl chr16:28,603,944...28,623,625
JBrowse link
G TAGLN transgelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:117,199,294...117,207,465
Ensembl chr11:117,199,370...117,207,464
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IEP protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IEP protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,770
JBrowse link
G TCN2 transcobalamin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
JBrowse link
G TNFAIP8 TNF alpha induced protein 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr 5:119,268,759...119,399,688
Ensembl chr 5:119,268,692...119,399,688
JBrowse link
G TNXB tenascin XB EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link
G TP53 tumor protein p53 IAGP
EXP
ISO
DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16543248 PMID:25151357, PMID:28789369 RGD:14995932 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TPI1 triosephosphate isomerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:6,866,834...6,870,948
Ensembl chr12:6,867,119...6,870,948
JBrowse link
G TPM1 tropomyosin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:63,042,698...63,071,915
Ensembl chr15:63,042,632...63,071,915
JBrowse link
G TPM2 tropomyosin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TXNDC17 thioredoxin domain containing 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:6,641,060...6,644,541
Ensembl chr17:6,640,985...6,644,541
JBrowse link
G TYMP thymidine phosphorylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:11641616 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
G VENTX VENT homeobox EXP CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr10:133,237,855...133,241,928
Ensembl chr10:133,237,855...133,241,928
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 disease_progression IEP RGD PMID:24626331 RGD:21081532 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP
EXP
esophageal squamous cell carcinoma, OMIM:133239
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
CTD
ClinVar
PMID:11956080 PMID:25526675, PMID:11956080 RGD:1599874 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
G XRCC1 X-ray repair cross complementing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16639733 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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G ZCCHC12 zinc finger CCHC-type containing 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:118,823,824...118,826,968
Ensembl chr  X:118,823,824...118,826,968
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palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHBDF2 rhomboid 5 homolog 2 IAGP ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER
ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome
ClinVar
OMIM
PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 PMID:28492532 NCBI chr17:76,470,893...76,501,440
Ensembl chr17:76,470,891...76,501,790
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20175
    disease of cellular proliferation 8003
      cancer 5378
        organ system cancer 5217
          gastrointestinal system cancer 2682
            esophageal cancer 187
              esophageal carcinoma + 175
              esophageal neuroendocrine tumor 0
              esophagus lymphoma 0
              esophagus melanoma 0
              esophagus sarcoma + 0
              malignant granular cell esophageal tumor 0
              neurofibroma of the esophagus 0
              palmoplantar keratoderma-esophageal carcinoma syndrome 1
Path 2
Term Annotations click to browse term
  disease 20175
    disease of cellular proliferation 8003
      Neoplasms by Site 7573
        Digestive System Neoplasms 3626
          Gastrointestinal Neoplasms 3499
            Esophageal Neoplasms 234
              esophageal cancer 187
                esophageal carcinoma + 175
                esophageal neuroendocrine tumor 0
                esophagus lymphoma 0
                esophagus melanoma 0
                esophagus sarcoma + 0
                malignant granular cell esophageal tumor 0
                neurofibroma of the esophagus 0
                palmoplantar keratoderma-esophageal carcinoma syndrome 1
paths to the root