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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 Neoplasms
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Accession:DOID:9000117 term browser browse the term
Definition:Tumors or cancer of the ESOPHAGUS.
Synonyms:exact_synonym: Esophageal Neoplasm;   Esophagus Neoplasm;   Esophagus Neoplasms
 primary_id: MESH:D004938

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Esophageal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332314 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734 		JBrowse link
G ACTB actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr28:16,195,676...16,197,161
Ensembl chr12:52,426,752...52,427,879 		JBrowse link
G ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 7:47,571,477...47,592,502
Ensembl chr 7:47,571,564...47,590,593 		JBrowse link
G AKAP13 A-kinase anchoring protein 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr29:4,009,921...4,364,226
Ensembl chr29:4,106,732...4,359,516 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:8850269 NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374 		JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406566 NCBI chr16:4,112,795...4,121,764
Ensembl chr16:4,111,151...4,121,645 		JBrowse link
G AQP3 aquaporin 3 (Gill blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr12:46,817,790...46,825,154 JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 6:42,186,028...42,193,105 JBrowse link
G BBC3 BCL2 binding component 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16481741 NCBI chr 6:40,560,550...40,572,428
Ensembl chr 6:40,561,274...40,567,853 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G BCL2A1 BCL2 related protein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr26:3,451,773...3,461,215
Ensembl chr26:3,451,873...3,461,180 		JBrowse link
G BSG basigin (Ok blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chr 6:309,579...320,209
Ensembl chr 6:309,506...321,785 		JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17450141 PMID:21472143 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12235107 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357 		JBrowse link
G CCNH cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326 		JBrowse link
G CDH13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr 5:68,048,655...69,213,102
Ensembl chr 5:68,451,894...69,211,534 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:11903577 RGD:8662379 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342 		JBrowse link
G CRYAB crystallin alpha B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 1:103,258,715...103,263,274
Ensembl chr 1:103,257,347...103,261,990 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7692001 NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277 		JBrowse link
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697 		JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21298351 PMID:21468131 PMID:22042947 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G ENO1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr20:122,884,846...122,902,669
Ensembl chr20:122,884,727...122,903,372 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22042947 NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952 		JBrowse link
G FASLG Fas ligand ISO protein:increased expression:esophageal mucosa: RGD PMID:9605741 RGD:11049151 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr11:6,569,029...6,572,877 JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962 		JBrowse link
G GNG7 G protein subunit gamma 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18219292 NCBI chr 6:2,287,339...2,485,304
Ensembl chr 6:2,287,895...2,293,067 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr13:71,855,960...72,545,376
Ensembl chr13:71,855,794...72,325,857 		JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 PMID:35917945 NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr24:32,311,343...32,328,335
Ensembl chr24:32,311,271...32,328,339 		JBrowse link
G LOC103216270 cytochrome P450 26A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr 9:86,310,142...86,328,622
Ensembl chr 9:86,325,401...86,328,775 		JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:18,315,243...18,377,492
Ensembl chr 8:18,315,130...18,324,345 		JBrowse link
G MACIR macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr23:6,695,131...6,714,925
Ensembl chr23:6,712,171...6,712,791 		JBrowse link
G MAP3K3 mitogen-activated protein kinase kinase kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr16:57,594,770...57,670,047
Ensembl chr16:57,597,288...57,669,720 		JBrowse link
G MARCHF8 membrane associated ring-CH-type finger 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 9:41,157,445...41,294,277 JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22042947 NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093 		JBrowse link
G MLH3 mutL homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16981255 NCBI chr24:52,231,468...52,266,179 JBrowse link
G MMP14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22844359 RGD:7207890 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264214 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr21:119,174,829...119,196,840 JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr22:61,005,404...61,043,016
Ensembl chr22:61,006,667...61,040,832 		JBrowse link
G PHB1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr20:87,267,026...87,277,634
Ensembl chr20:87,267,044...87,279,978 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:11,484,452...11,489,067
Ensembl chr 6:11,481,784...11,489,051 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189197 NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 susceptibility ISO mRNA,protein:increased expression:Esophagus
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :-1195A > G, -765G > C (human)		 RGD
CTD		 PMID:11059772 PMID:16083713 PMID:16322294 PMID:17707579 PMID:22165968 RGD:5135528 RGD:5687745 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G RNF6 ring finger protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:5,461,053...5,471,268
Ensembl chr 3:5,462,126...5,468,555 		JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr10:38,863,940...38,865,912
Ensembl chr10:38,864,844...38,865,170 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18058463 NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307 		JBrowse link
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr20:105,902,481...105,904,313
Ensembl chr20:105,902,974...105,903,720 		JBrowse link
G SLC30A7 solute carrier family 30 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr20:32,355,201...32,457,491
Ensembl chr20:32,377,130...32,457,490 		JBrowse link
G SMYD2 SET and MYND domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25825497 NCBI chr25:15,236,773...15,293,154
Ensembl chr25:15,235,653...15,293,153 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 8:45,043,381...45,047,054
Ensembl chr 8:45,043,393...45,046,978 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11053990 PMID:15986332 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr15:81,946,287...81,947,775
Ensembl chr15:81,946,206...81,947,790 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789724 NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		JBrowse link
G TGM2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 2:25,585,827...25,623,961
Ensembl chr 2:25,585,865...25,624,280 		JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673 		JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:esophageal mucosa:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12706858 PMID:16778087 PMID:17634542 PMID:26192916 PMID:26439224 RGD:11075085 RGD:8547873 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135 		JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:14,566,958...14,604,754
Ensembl chr 6:14,566,869...14,598,934 		JBrowse link
G TRMT11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr13:47,680,321...47,735,103
Ensembl chr13:47,680,332...47,734,857 		JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:26,221,203...26,225,080
Ensembl chr 5:26,221,337...26,225,083 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15930319 NCBI chr27:9,074,961...9,086,606
Ensembl chr27:9,074,923...9,086,517 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr11:60,728,316...60,800,181
Ensembl chr11:60,727,948...60,799,960 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:17611394
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21347786 NCBI chr24:81,627,911...81,641,598
Ensembl chr24:81,630,099...81,641,218 		JBrowse link
Barrett's adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPX3 glutathione peroxidase 3 ISO DNA:hypermethylation
DNA:hypermethylation:promoter		 RGD PMID:16229808 PMID:18664505 RGD:151665354 RGD:151665749 NCBI chr23:53,576,950...53,585,321 JBrowse link
G GPX7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr20:80,335,248...80,342,687
Ensembl chr20:80,335,033...80,342,124 		JBrowse link
G LOC103216270 cytochrome P450 26A1 ISO RGD PMID:18059332 RGD:13782259 NCBI chr 9:86,310,142...86,328,622
Ensembl chr 9:86,325,401...86,328,775 		JBrowse link
esophageal cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased expression:esophagus (human) RGD PMID:27188433 RGD:152995510 NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: Esophageal cancer, alcohol-related, susceptibility to ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374 		JBrowse link
G BHLHE41 basic helix-loop-helix family member e41 ISO protein:increased expression:esophagus(human) RGD PMID:29890466 RGD:151665308 NCBI chr11:25,872,139...25,879,985
Ensembl chr11:25,874,108...25,876,826 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 PMID:31911673 NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO RGD PMID:9863006 RGD:2289811 NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190 		JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:20232121 RGD:5134997 NCBI chr 7:22,327,041...22,329,405
Ensembl chr 7:22,569,355...22,569,900
Ensembl chr 7:22,569,355...22,569,900 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:11833070 PMID:26782562 RGD:11554919 RGD:14700950 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ameliorates ISO RNA:decreased expression:esophagus (human) RGD PMID:14760115 RGD:152025255 NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884 		JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697 		JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 NCBI chr15:1,297,129...1,364,134
Ensembl chr15:1,296,204...1,363,806 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:29660336 RGD:21409755 NCBI chr 7:70,089,394...70,157,423 JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO DNA:hypermethylation RGD PMID:33292587 RGD:151665781 NCBI chr23:53,576,950...53,585,321 JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:esophagus RGD PMID:20498946 RGD:4145286 NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:26603620 RGD:152998997 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL1B interleukin 1 beta treatment ISO RGD PMID:26603620 RGD:152998997 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 susceptibility ISO DNA:SNP:cds:rs11674595|rs2072472 (human) RGD PMID:31744444 RGD:152998961 NCBI chr14:5,672,434...5,708,270
Ensembl chr14:5,673,163...5,708,372 		JBrowse link
G IL5 interleukin 5 treatment ISO RGD PMID:20232121 RGD:5134997 NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO RGD PMID:11833070 PMID:12406553 PMID:23749488 PMID:26782562 RGD:11554919 RGD:14700950 RGD:14700964 RGD:14700969 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 ISO esophageal squamous cell carcinoma, OMIM:133239 RGD PMID:10097140 RGD:1600104 NCBI chr 8:18,315,243...18,377,492
Ensembl chr 8:18,315,130...18,324,345 		JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:65,064,715...65,078,972 JBrowse link
G MXI1 MAX interactor 1, dimerization protein ISO RGD PMID:10849326 RGD:1298988 NCBI chr 9:103,131,534...103,211,609
Ensembl chr 9:103,131,420...103,209,231 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA:splice variants:esophagus (human) RGD PMID:24527027 RGD:150519911 NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO protein:increased expression:esophagus (human) RGD PMID:27188433 RGD:152995510 NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
G PTEN phosphatase and tensin homolog treatment ISO human gene and cells in a mouse model
protein:decreased expression:esophagus (human)		 RGD PMID:20378992 PMID:27188433 RGD:127285592 RGD:152995510 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA,protein:decreased expression:esophagus: RGD PMID:33862112 RGD:151232285 NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:7664267 PMID:9395234 PMID:9536098 PMID:10789724 PMID:11212236 More... NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 disease_progression
severity		 ISO DNA:SNP:intron 6: (rs610604) (human)
DNA:SNP:3'utr: (rs583522) (human)		 RGD PMID:25354935 PMID:26598072 RGD:11075880 RGD:151347597 NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:7887414 PMID:8023157 PMID:8118819 PMID:8164043 PMID:8825920 More... NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:exon 9: p.T304A, c.910A>G (human) RGD PMID:24345911 RGD:150530620 NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094 		JBrowse link
esophageal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 severity ISO DNA:SNPs:introns: (rs3803304, rs1130214) RGD PMID:19164214 RGD:408345192 NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 disease_progression ISO mRNA:increased expression:esophagus (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:965,811...970,983 JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:17972177 PMID:18431501 PMID:18627636 PMID:18779604 PMID:21120943 More... NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:10027390 PMID:10192393 More... NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Esophageal carcinoma, somatic ClinVar PMID:8187090 NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:15623594 PMID:16205628 PMID:16707764 PMID:16863509 PMID:17653080 More... NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:26619011 NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:16397024 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704 		JBrowse link
G GRB7 growth factor receptor bound protein 7 exacerbates ISO mRNA:increased expression:esophagus mucosa (human) RGD PMID:8988034 RGD:151347660 NCBI chr16:66,416,978...66,427,035
Ensembl chr16:66,416,904...66,426,300 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637 		JBrowse link
G HTRA1 HtrA serine peptidase 1 disease_progression ISO mRNA,protein:decreased expression:esophagus (human) RGD PMID:22935172 RGD:152985525 NCBI chr 9:115,197,543...115,250,092
Ensembl chr 9:115,197,566...115,253,919 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO associated with Immune Deficiency Disease, human cells in mouse model RGD PMID:25724470 RGD:127285656 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 More... NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 exacerbates ISO mRNA:decreased expression:espohagus (human) RGD PMID:32831056 RGD:155630592 NCBI chr 6:7,355,387...7,365,944
Ensembl chr 6:7,355,434...7,364,398 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:25157968 PMID:26619011 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma		 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:26619011 NCBI chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 severity ISO RGD PMID:15906366 RGD:151361282 NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754 		JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma		 ClinVar PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 More... NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO associated with Immune Deficiency Disease, human cells in mouse model RGD PMID:25724470 RGD:127285656 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma | ClinVar Annotator: match by term: Esophageal carcinoma, somatic ClinVar PMID:124622 PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 More... NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		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 ISO DNA:SNP:3'utr: (rs4740363) (human) RGD PMID:21472143 RGD:126925218 NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:23525077 PMID:31906887 RGD:127285649 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G BARX1 BARX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr12:104,299,516...104,307,613
Ensembl chr12:104,303,265...104,306,251 		JBrowse link
G BCL2 BCL2 apoptosis regulator onset ISO DNA:SNPs:3'utr: (rs720321, rs17757541) (human) RGD PMID:21472143 RGD:126925218 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G BECN1 beclin 1 ISO RGD PMID:22301112 RGD:11561943 NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 treatment ISO RGD PMID:26291056 RGD:152999007 NCBI chr 1:93,692,239...93,711,905 JBrowse link
G CASP8 caspase 8 onset ISO DNA:SNP:5'utr: (rs1035142) (human) RGD PMID:21472143 RGD:126925218 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829 		JBrowse link
G CDC5L cell division cycle 5 like disease_progression ISO protein:increased expression:esophageal mucosa (human) RGD PMID:15725809 RGD:10047052 NCBI chr17:27,727,185...27,785,233
Ensembl chr17:27,722,819...27,785,268 		JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr 6:17,146,954...17,246,209 JBrowse link
G CTSB cathepsin B ISO RGD PMID:9770500 RGD:734853 NCBI chr 8:7,246,076...7,269,655
Ensembl chr 8:7,246,013...7,268,854 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 onset ISO DNA:SNP:5'utr: (rs2445762) (human) RGD PMID:21472143 RGD:126925218 NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 treatment ISO mRNA:increased expression:esophagus (human) RGD PMID:30187205 RGD:151665176 NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884 		JBrowse link
G DOCK2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr23:71,866,196...72,299,066
Ensembl chr23:71,866,251...72,299,056 		JBrowse link
G ELMO1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr21:21,066,910...21,639,149
Ensembl chr21:21,066,924...21,640,705 		JBrowse link
G EMX2 empty spiracles homeobox 2 ISO protein:decreased expression:esophagus (human) RGD PMID:31432154 RGD:153323302 NCBI chr 9:110,347,043...110,353,647
Ensembl chr 9:110,347,379...110,353,643 		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 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967 		JBrowse link
G FOXA1 forkhead box A1 ISO protein:increased expression:esophagus RGD PMID:12234996 RGD:151665758 NCBI chr24:14,397,759...14,403,078
Ensembl chr24:14,396,702...14,403,094 		JBrowse link
G FOXP1 forkhead box P1 ISO DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:24121790 PMID:26383589 RGD:11535321 NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide onset ISO DNA:SNP:5'utr: (rs696217) (human) RGD PMID:21472143 RGD:126925218 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962 		JBrowse link
G GPX3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs:intron: (rs4958872, rs3792797) (human) RGD PMID:22715394 RGD:152995500 NCBI chr23:53,576,950...53,585,321 JBrowse link
G GRB7 growth factor receptor bound protein 7 treatment
exacerbates		 ISO human cells in a mouse model RGD PMID:31809243 PMID:32737994 RGD:151347656 RGD:151347659 NCBI chr16:66,416,978...66,427,035
Ensembl chr16:66,416,904...66,426,300 		JBrowse link
G KDR kinase insert domain receptor onset ISO DNA:SNP:5'utr: (rs11941492) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO DNA:deletion:: (human) RGD PMID:17064856 RGD:12792242 NCBI chr20:23,854,969...23,861,634 JBrowse link
G MMP1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 1:94,243,061...94,261,035
Ensembl chr 1:94,243,875...94,259,591 		JBrowse link
G MMP14 matrix metallopeptidase 14 onset ISO DNA:SNP:5'utr: (rs2236302) (human) RGD PMID:21472143 RGD:126925218 NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO DNA:insertion:promoter:g.-1613insA rs3025058 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:esophagus RGD PMID:25562781 RGD:13204790 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G NELL1 neural EGFL like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452981 NCBI chr 1:43,416,052...44,335,894
Ensembl chr 1:43,415,553...44,335,381 		JBrowse link
G NOS3 nitric oxide synthase 3 onset ISO DNA:SNP:3'utr: (rs2070744) (human) RGD PMID:21472143 RGD:126925218 NCBI chr21:119,174,829...119,196,840 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO mRNA,protein:increased expression:Esophagus RGD PMID:22165968 RGD:5687745 NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
protein: increased expression: esophagus		 CTD
RGD		 PMID:12055587 PMID:12507933 RGD:13207437 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 disease_progression ISO DNA:hypermethylation: (human) RGD PMID:23243219 RGD:150557426 NCBI chr 1:2,712,792...2,737,874
Ensembl chr 1:2,715,027...2,737,872 		JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 PMID:24952744 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709 		JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:17785574 RGD:2317403 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G SPART spartin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 3:14,887,896...14,925,296
Ensembl chr 3:14,886,633...14,924,865 		JBrowse link
G TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515 		JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a onset ISO DNA:SNP:3'utr: (rs11775256) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G 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 chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
esophagus small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103243443 keratin, type I cytoskeletal 14 ISO protein:increased expression:esophagus RGD PMID:16140947 RGD:1600174 NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21206495 NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265 		JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr18:60,259,479...60,267,302 JBrowse link
G AJUBA ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr29:23,341,841...23,352,630
Ensembl chr29:23,341,249...23,352,685 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 disease_progression ISO protein:increased expression:esophagus (human) RGD PMID:32642408 RGD:152995512 NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374 		JBrowse link
G ANXA1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562 		JBrowse link
G ATM ATM serine/threonine kinase disease_progression ISO Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) RGD PMID:17019709 RGD:150340713 NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr16:7,030,016...7,035,620
Ensembl chr16:7,030,055...7,037,754 		JBrowse link
G AXIN1 axin 1 disease_progression ISO protein:decreased expression:esophagus (human) RGD PMID:12771989 RGD:150530473 NCBI chr 5:233,520...295,134
Ensembl chr 5:234,060...290,575 		JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding disease_progression ISO RGD PMID:28053542 RGD:153350138 NCBI chr28:13,104,262...13,120,329
Ensembl chr28:13,104,323...13,120,363 		JBrowse link
G AZIN1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr 8:97,679,775...97,717,486
Ensembl chr 8:97,679,468...97,696,928 		JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809 		JBrowse link
G BLVRB biliverdin reductase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:34,902,632...34,925,105
Ensembl chr 6:34,902,598...34,925,100 		JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:21165554 RGD:126781701 NCBI chr 9:22,095,592...22,104,894 JBrowse link
G BMP6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr17:64,279,243...64,436,356
Ensembl chr17:64,280,609...64,435,382 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr16:63,162,827...63,243,928 JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		JBrowse link
G BST2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr26:42,769,955...42,855,353
Ensembl chr26:42,792,830...42,855,306 		JBrowse link
G CA1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:80,699,114...80,729,932
Ensembl chr 8:80,699,651...80,712,858 		JBrowse link
G CA12 carbonic anhydrase 12 severity ISO RGD PMID:26316888 RGD:155226859 NCBI chr26:20,162,706...20,221,680
Ensembl chr26:20,162,926...20,224,502 		JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:80,830,963...80,848,245
Ensembl chr 8:80,830,939...80,848,707 		JBrowse link
G CALR calreticulin ameliorates ISO CTD Direct Evidence: marker/mechanism
human cells in a mouse model		 CTD
RGD		 PMID:19684620 PMID:21517111 PMID:23814025 RGD:150521679 RGD:150521703 NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792 		JBrowse link
G CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:20,968,348...21,017,256
Ensembl chr20:20,969,828...20,991,971 		JBrowse link
G CASP8 caspase 8 exacerbates ISO mRNA,protein:decreased expression:esophagus squamous epithelium (human) RGD PMID:31885720 RGD:153300949 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829 		JBrowse link
G CBX8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr16:71,755,598...71,760,611
Ensembl chr16:71,755,627...71,760,632 		JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr17:41,319,392...41,334,661
Ensembl chr17:41,319,423...41,334,502 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342 		JBrowse link
G CFL1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:8,408,560...8,410,564 JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit susceptibility ISO DNA:SNP: :rs667282(human)
mRNA:increased expression:esophagus (human)		 RGD PMID:23844051 PMID:27610024 RGD:150524358 RGD:151361143 NCBI chr26:4,747,734...4,779,231
Ensembl chr26:4,749,766...4,776,822 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit exacerbates
disease_progression		 ISO mRNA:increased expression:esophagus (human) RGD PMID:27610024 PMID:33603170 RGD:151361143 RGD:151667905 NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO mRNA:increased expression:esophagus (human) RGD PMID:27610024 RGD:151361143 NCBI chr26:4,700,217...4,717,363
Ensembl chr26:4,701,321...4,719,319 		JBrowse link
G CLIC1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:40,286,051...40,292,377
Ensembl chr17:40,286,491...40,292,113 		JBrowse link
G CLPTM1L CLPTM1 like susceptibility
no_association		 ISO DNA:SNP: :rs401681(human)
mRNA:increased expression:esophagus
DNA:SNP: :rs451360(human)		 RGD PMID:24386361 PMID:25007268 PMID:25480402 PMID:26716642 RGD:11572962 RGD:150530488 RGD:150530497 RGD:150537098 NCBI chr 4:1,140,272...1,162,663
Ensembl chr 4:1,140,132...1,162,898 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain disease_progression ISO DNA:hypermethylation RGD PMID:25050929 RGD:151665741 NCBI chr 8:114,701,662...114,946,216
Ensembl chr 8:114,701,664...114,887,483 		JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr26:4,987,927...4,996,431
Ensembl chr26:4,987,882...4,996,343 		JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:32038997 RGD:150524298 NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304 		JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:87,551,341...87,555,145 JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma ClinVar PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO mRNA:increased expression:esophagus (human) RGD PMID:31423201 RGD:150520019 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 disease_progression ISO protein:increased expression:esophagus squamous epithelium (human) RGD PMID:17171785 RGD:152023646 NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility ISO DNA:SNP:CDS: (rs2296241) (human) RGD PMID:28362172 RGD:151665500 NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr14:35,030,011...35,057,164
Ensembl chr14:35,038,654...35,057,176 		JBrowse link
G DAB2IP DAB2 interacting protein severity ISO protein:decreased expression:esophagus (human) RGD PMID:30464518 RGD:151665168 NCBI chr12:17,802,030...18,017,648
Ensembl chr12:17,801,831...17,830,890 		JBrowse link
G DCC DCC netrin 1 receptor ISO OMIM NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697 		JBrowse link
G DIDO1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 2:1,285,027...1,345,726
Ensembl chr 2:1,285,051...1,345,846 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570 		JBrowse link
G DPP4 dipeptidyl peptidase 4 ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr10:47,396,605...47,481,478
Ensembl chr10:47,394,093...47,480,893 		JBrowse link
G EFNB2 ephrin B2 severity
exacerbates
ameliorates		 ISO mRNA:increased expression:esophagus squamous epithelium (human)
mRNA,protein:increased expression:esophagus squamous epithelium (human)
human cells in mouse model		 RGD PMID:17611172 PMID:29190834 PMID:31885720 RGD:153300947 RGD:153300948 RGD:153300949 NCBI chr 3:84,904,421...84,949,292
Ensembl chr 3:84,904,435...84,949,465 		JBrowse link
G EGFR epidermal growth factor receptor severity ISO protein:increased expression:esophagus (human)
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma		 RGD
ClinVar		 PMID:10385363 PMID:23485129 PMID:25157968 RGD:5131486 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 disease_progression ISO protein:increased expression:esophagus:
protein:increased expression:esophagus mucosa:		 RGD PMID:24649311 PMID:24805087 RGD:9589143 RGD:9590071 NCBI chr12:380,041...545,333
Ensembl chr12:379,943...497,033 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr17:40,123,935...40,141,942
Ensembl chr17:40,124,640...40,141,616 		JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979 		JBrowse link
G EPB41L3 erythrocyte membrane protein band 4.1 like 3 disease_progression ISO DNA:hypermethylation RGD PMID:25050929 RGD:151665741 NCBI chr18:64,489,194...64,704,733
Ensembl chr18:64,489,042...64,585,973 		JBrowse link
G EPHB4 EPH receptor B4 exacerbates ISO mRNA,protein:increased expression:esophagus squamous epithelium (human) RGD PMID:31885720 RGD:153300949 NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression
susceptibility		 ISO protein:altered localization:nucleus
DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)		 RGD PMID:18000820 PMID:24916311 RGD:126781764 RGD:126781765 NCBI chr10:97,099,090...98,281,697 JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO RGD PMID:21165554 PMID:25613619 RGD:126781697 RGD:126781701 NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573 		JBrowse link
G FANCA FA complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591 		JBrowse link
G FAP fibroblast activation protein alpha ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr10:47,578,164...47,652,179
Ensembl chr10:47,577,888...47,652,689 		JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr16:73,988,410...74,008,374
Ensembl chr16:73,982,899...74,006,551 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:esophagus squamous epithelium (human)		 CTD
RGD		 PMID:24590895 PMID:25151357 PMID:29365412 RGD:151347630 RGD:151347646 NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112 		JBrowse link
G FAT2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr23:54,064,687...54,152,696
Ensembl chr23:54,064,393...54,152,416 		JBrowse link
G FAT3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 1:83,471,266...84,159,858
Ensembl chr 1:83,609,116...84,158,537 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084 		JBrowse link
G FES FES proto-oncogene, tyrosine kinase exacerbates ISO DNA:hypermethylation: (human) RGD PMID:24936140 RGD:153323298 NCBI chr29:8,967,542...8,979,475
Ensembl chr29:8,965,997...8,979,361 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 treatment ISO RGD PMID:25989802 RGD:150520041 NCBI chr23:79,095,031...79,106,018
Ensembl chr23:79,097,429...79,105,456 		JBrowse link
G FKBP1A FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:55,170,816...55,195,380 JBrowse link
G FOXA1 forkhead box A1 onset ISO DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human) RGD PMID:27050876 PMID:29788741 RGD:151665743 RGD:151665759 NCBI chr24:14,397,759...14,403,078
Ensembl chr24:14,396,702...14,403,094 		JBrowse link
G FUBP1 far upstream element binding protein 1 exacerbates ISO protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus (human)		 RGD PMID:26490982 PMID:32481602 RGD:151361192 RGD:151361197 NCBI chr20:55,194,681...55,233,666
Ensembl chr20:55,194,743...55,230,277 		JBrowse link
G GDI2 GDP dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:5,876,245...5,923,011
Ensembl chr 9:5,877,042...5,922,968 		JBrowse link
G GLO1 glyoxalase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:33,446,134...33,472,240
Ensembl chr17:33,446,145...33,473,699 		JBrowse link
G GPX3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation RGD PMID:25050929 PMID:30018730 RGD:151665494 RGD:151665741 NCBI chr23:53,576,950...53,585,321 JBrowse link
G GRB7 growth factor receptor bound protein 7 exacerbates ISO protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus mucosa (human)		 RGD PMID:10797316 PMID:26465158 RGD:151347654 RGD:151347661 NCBI chr16:66,416,978...66,427,035
Ensembl chr16:66,416,904...66,426,300 		JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:97,305,094...97,317,892 JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G HMGB1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:9,353,333...9,357,765 JBrowse link
G HMGN5 high mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28914995 NCBI chr  X:70,103,170...70,201,472
Ensembl chr  X:70,102,034...70,111,019 		JBrowse link
G HOXB7 homeobox B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr16:69,020,325...69,024,362
Ensembl chr16:69,020,906...69,023,671 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431 		JBrowse link
G HTRA1 HtrA serine peptidase 1 exacerbates
ameliorates		 ISO mRNA,protein:decreased expression:epithelium of esophagus (human)
human gene and cells in mouse model		 RGD PMID:23079781 RGD:152975633 NCBI chr 9:115,197,543...115,250,092
Ensembl chr 9:115,197,566...115,253,919 		JBrowse link
G JAK2 Janus kinase 2 severity ISO protein:increased phosphorylation:esophagus squamous epithelium (human) RGD PMID:32158193 RGD:127285669 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit exacerbates ISO protein:increased expression:esophagus (human) RGD PMID:19758438 PMID:30227324 RGD:151347669 RGD:151347672 NCBI chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450 		JBrowse link
G KAT2B lysine acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr15:64,769,590...64,885,536
Ensembl chr15:64,770,185...64,886,219 		JBrowse link
G KDM4C lysine demethylase 4C severity
susceptibility		 ISO protein:increased expression:esophageal epithelium, nucleus (human)
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)		 RGD PMID:15805246 PMID:24224128 RGD:9587746 RGD:9587752 NCBI chr12:72,346,194...72,763,040
Ensembl chr12:72,347,071...72,761,666 		JBrowse link
G KDM5B lysine demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr25:26,599,740...26,685,256
Ensembl chr25:26,600,736...26,683,632 		JBrowse link
G KDM6A lysine demethylase 6A ameliorates ISO DNA:mutations:multiple (human)
protein:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:esophagus (human)		 RGD
CTD		 PMID:25151357 PMID:29351209 PMID:31804468 RGD:150429739 RGD:150429742 RGD:9588233 NCBI chr  X:42,053,272...42,291,013
Ensembl chr  X:42,053,336...42,290,526 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 CTD
RGD		 PMID:25151357 RGD:9588233 NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO DNA:mutations:multiple (human)
mRNA:increased expression:esophagus
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:25151357 PMID:29532228 RGD:150521712 RGD:9588233 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423 		JBrowse link
G KRT13 keratin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr16:64,735,285...64,740,791 JBrowse link
G KRT16 keratin 16 ISO RGD PMID:8950218 RGD:633113 NCBI chr16:64,629,385...64,633,125
Ensembl chr16:64,630,042...64,633,114 		JBrowse link
G KRT17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr16:64,615,194...64,622,931
Ensembl chr16:64,617,219...64,622,971 		JBrowse link
G KRT19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr16:64,714,497...64,719,805
Ensembl chr16:64,714,970...64,719,678 		JBrowse link
G KRT7 keratin 7 disease_progression ISO RGD PMID:29788741 RGD:151665759 NCBI chr11:48,379,460...48,394,638
Ensembl chr11:48,379,465...48,394,643 		JBrowse link
G LOC103219825 protein patched homolog 1 disease_progression ISO RGD PMID:16475698 RGD:150523841 NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985 		JBrowse link
G LOC103221937 histone H2B type 1-M ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:44,715,875...44,716,426
Ensembl chr17:44,715,922...44,716,299 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 no_association ISO RGD PMID:11860825 PMID:17916905 PMID:25432134 RGD:14700943 RGD:14700948 RGD:14700982 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103231165 isocitrate dehydrogenase (NADP(+)) 2 severity ISO human cells in mouse model RGD PMID:32367071 RGD:149735568 NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657 		JBrowse link
G LOC103233044 metallothionein-1X ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 5:42,637,027...42,638,751
Ensembl chr 5:42,637,113...42,638,611 		JBrowse link
G LOC103243443 keratin, type I cytoskeletal 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319 		JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr 8:21,416,821...21,516,923
Ensembl chr 8:21,416,787...21,516,854 		JBrowse link
G LTA lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198
G LZTS1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition OMIM
ClinVar		 PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532 NCBI chr 8:18,315,243...18,377,492
Ensembl chr 8:18,315,130...18,324,345 		JBrowse link
G MAD2L1 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 7:67,351,785...67,360,244 JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 sexual_dimorphism ISO DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) RGD PMID:32753933 RGD:150573717 NCBI chr 4:53,040,731...53,120,784
Ensembl chr 4:53,084,023...53,120,772 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility ISO DNA:snp:intron:IVS5-140A>G (rs3138355) (human)
DNA:snp:cds:p.E346K (rs140693) (human)		 RGD PMID:15205355 PMID:25162968 RGD:9588976 RGD:9588980 NCBI chr22:51,616,840...51,626,232
Ensembl chr22:51,616,803...51,626,224 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21674174 PMID:25520135 RGD:126790574 NCBI chr 9:122,089,768...122,376,320 JBrowse link
G MLH1 mutL homolog 1 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus RGD PMID:21674174 RGD:126790574 NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased activity: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MSH2 mutS homolog 2 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus
DNA, protein:hypermethylation, decreased expression:esophagus		 RGD PMID:21674174 PMID:22265839 PMID:24366688 RGD:126790560 RGD:126790573 RGD:126790574 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784 		JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO mRNA, protein:decreased expression:esophagus (human) RGD PMID:33833989 RGD:153344568 NCBI chr 5:26,833,333...26,837,655
Ensembl chr 5:26,833,675...26,837,640 		JBrowse link
G PBX3 PBX homeobox 3 ISO RNA:increased expression:esophagus squamous epithelium (human) RGD PMID:32449803 RGD:153345544 NCBI chr12:12,174,407...12,400,184 JBrowse link
G PFN1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr16:4,426,853...4,430,259
Ensembl chr16:4,426,962...4,429,713 		JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr 9:87,214,166...87,559,010
Ensembl chr 9:87,214,355...87,555,733 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:87,267,026...87,277,634
Ensembl chr20:87,267,044...87,279,978 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 disease_progression ISO RGD PMID:19492245 RGD:6482249 NCBI chr17:39,246,356...39,251,852
Ensembl chr17:39,245,854...39,251,842 		JBrowse link
G PSME1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr24:1,122,086...1,124,907
Ensembl chr24:1,122,631...1,125,416 		JBrowse link
G PSME2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr24:1,129,389...1,133,289
Ensembl chr24:1,129,419...1,132,596 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G PTPRT protein tyrosine phosphatase receptor type T susceptibility ISO DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) RGD PMID:25967969 RGD:150520191 NCBI chr 2:20,613,352...21,720,417 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546 		JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 severity
disease_progression		 ISO protein:increased expression:esophagus (human)
human cells in mouse model		 RGD PMID:28132115 PMID:30119206 PMID:32642408 RGD:152995460 RGD:152995470 RGD:152995512 NCBI chr 4:37,758,531...37,885,323
Ensembl chr 4:37,762,901...37,873,766 		JBrowse link
G RNF6 ring finger protein 6 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar
OMIM		 PMID:12154016 NCBI chr 3:5,461,053...5,471,268
Ensembl chr 3:5,462,126...5,468,555 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO mRNA:increased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr17:26,679,386...26,807,812
Ensembl chr17:26,683,175...26,807,319 		JBrowse link
G RUNX3 RUNX family transcription factor 3 disease_progression ISO mRNA:decreased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321 		JBrowse link
G SETD5 SET domain containing 5 disease_progression ISO RGD PMID:31981592 RGD:155804254 NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217 		JBrowse link
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:105,902,481...105,904,313
Ensembl chr20:105,902,974...105,903,720 		JBrowse link
G SLC16A10 solute carrier family 16 member 10 ISO protein:increased expression:esophagus RGD PMID:33609949 RGD:151361149 NCBI chr13:62,645,692...62,787,508
Ensembl chr13:62,646,876...62,786,048 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 disease_progression ISO protein:increased expression:esophagus RGD PMID:26936531 PMID:33609949 RGD:11532833 RGD:151361149 NCBI chr 6:40,139,417...40,150,312 JBrowse link
G SLC39A6 solute carrier family 39 member 6 ISO CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr18:44,681,718...44,702,741
Ensembl chr18:44,681,508...44,702,754 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr 2:55,744,934...55,760,957
Ensembl chr 2:55,752,837...55,761,120 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO protein:increased expression:esophagus RGD PMID:26936531 PMID:31726270 PMID:33609949 RGD:11532833 RGD:151361144 RGD:151361149 NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 severity
treatment		 ISO mRNA:decreased expression:esophagus RGD PMID:21385099 PMID:28233302 PMID:31728180 RGD:150573691 RGD:150573812 RGD:150573815 NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826 		JBrowse link
G SPEN spen family transcriptional repressor ISO associated with Neoplasm Metastasis; DNA:mutations RGD PMID:33363385 RGD:151347445 NCBI chr20:116,359,981...116,458,156
Ensembl chr20:116,361,008...116,458,064 		JBrowse link
G STIM1 stromal interaction molecule 1 exacerbates ISO protein:increased expression:esophagus (human) RGD PMID:31843504 RGD:152995393 NCBI chr 1:62,651,472...62,865,992
Ensembl chr 1:62,651,290...62,865,986 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr23:42,153,576...42,160,903
Ensembl chr23:42,153,026...42,160,907 		JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:108,570,342...108,575,789
Ensembl chr 1:108,574,007...108,575,348 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr17:39,252,000...39,260,195 JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr17:39,266,870...39,277,658 JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810 		JBrowse link
G TERT telomerase reverse transcriptase no_association
susceptibility		 ISO DNA:SNP: :rs2736098(human)
mRNA:increased expression:esophagus squamous epithelium:
DNA:SNPs: : rs2853691,rs2736100(human)		 RGD PMID:15112252 PMID:25007268 PMID:26716642 RGD:11572962 RGD:150530488 RGD:152977757 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 severity ISO mRNA:decreased expression:esophagus squamous epithelium (human)
associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)
DNA:mutations		 RGD PMID:26093090 PMID:26873401 PMID:27050164 RGD:11528815 RGD:150429656 RGD:150429668 NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:27050164 RGD:150429668 NCBI chr14:33,170,046...33,293,128
Ensembl chr14:33,176,039...33,293,906 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO OMIM NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity ISO mRNA,protein:increased expression:esophagus squamous epithelium (human) RGD PMID:28197630 RGD:151347617 NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197 		JBrowse link
G TNFAIP8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr23:22,514,427...22,636,888
Ensembl chr23:22,573,208...22,636,936 		JBrowse link
G TNXB tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr17:39,919,839...39,988,087
Ensembl chr17:39,919,772...39,986,868 		JBrowse link
G TP53 tumor protein p53 ISO DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16543248 PMID:25151357 PMID:28789369 RGD:14995932 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:6,900,762...6,904,188
Ensembl chr11:6,900,787...6,906,787 		JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135 		JBrowse link
G TPM2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:44,912,250...44,920,615
Ensembl chr12:44,912,223...44,919,456 		JBrowse link
G TXNDC17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr16:6,016,273...6,018,500 JBrowse link
G TYMP thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11641616 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215 		JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35022897 NCBI chr26:32,829,627...32,906,493
Ensembl chr26:32,829,523...32,866,073 		JBrowse link
G VENTX VENT homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698
G WRAP53 WD repeat containing antisense to TP53 disease_progression ISO RGD PMID:24626331 RGD:21081532 NCBI chr16:7,065,531...7,085,590
Ensembl chr16:7,066,333...7,085,625 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar
OMIM		 PMID:11956080 PMID:28492532 NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157 		JBrowse link
G XPO1 exportin 1 exacerbates ISO mRNA, protein:increased expression:epithelium of esophagus (human)
protein:increased expression:esophagus (human)		 RGD PMID:24898882 PMID:25148895 RGD:151667431 RGD:151667436 NCBI chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
no_association
treatment		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs,haplotypes:multiple (human)
DNA:missense mutation:cds: p.R399Q (human)
DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)		 CTD
RGD		 PMID:11400117 PMID:16639733 PMID:25710005 PMID:27123143 PMID:28356949 RGD:150530501 RGD:150530505 RGD:150530634 RGD:151347444 NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094 		JBrowse link
G ZCCHC12 zinc finger CCHC-type containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698
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 ISO ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER | ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome | ClinVar Annotator: match by term: Tylosis with esophageal cancer OMIM
ClinVar		 PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 More... NCBI chr16:45,176,152...45,205,464
Ensembl chr16:45,194,852...45,204,761 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      gastrointestinal system disease 6449
        esophageal disease 473
          Esophageal Neoplasms 274
            Leiomyoma of Vulva and Esophagus 0
            esophageal cancer + 232
            esophageal lipoma 0
            esophagus adenocarcinoma + 44
            esophagus leiomyoma 0
            esophagus squamous cell papilloma 0
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      gastrointestinal system disease 6449
        Digestive System Neoplasms 3621
          Gastrointestinal Neoplasms 3504
            Esophageal Neoplasms 274
              Leiomyoma of Vulva and Esophagus 0
              esophageal cancer + 232
              esophageal lipoma 0
              esophagus adenocarcinoma + 44
              esophagus leiomyoma 0
              esophagus squamous cell papilloma 0
paths to the root