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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, sub-family B (MDR/TAP), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332314 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		JBrowse link
G ACTB actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356 		JBrowse link
G AKAP13 A-kinase anchoring protein 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 7:87,889,384...88,222,854 JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:8850269 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124 		JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406566 NCBI chr12:52,287,174...52,295,873
Ensembl chr12:52,287,160...52,295,871 		JBrowse link
G AQP3 aquaporin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,082 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147 		JBrowse link
G BBC3 BCL2 binding component 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16481741 NCBI chr 6:53,037,103...53,046,902
Ensembl chr 6:53,037,104...53,045,685 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BCL2A1 BCL2 related protein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 7:48,887,227...48,897,667
Ensembl chr 7:48,887,094...48,897,870 		JBrowse link
G BSG basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chr 2:77,735,586...77,743,451 JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17450141 PMID:21472143 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12235107 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CCNH cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634 		JBrowse link
G CDH13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr 6:4,809,752...5,832,188
Ensembl chr 6:4,808,255...5,832,415 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:11903577 RGD:8662379 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism
Protein:decreased expression:esophagus		 CTD
RGD		 PMID:10969811 PMID:18410530 RGD:1600828 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CRYAB crystallin alpha B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7692001 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753 		JBrowse link
G CXCL2 chemokine (C-X-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21509778 NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138 		JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899 		JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr14:104,561,394...104,567,099
Ensembl chr14:104,563,195...104,567,095 		JBrowse link
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096 		JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21298351 PMID:21468131 PMID:22042947 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G ENO1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:69,385,879...69,401,664
Ensembl chr 6:69,385,879...69,401,151 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22042947 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:decreased expression:esophageal mucosa: RGD PMID:9605741 RGD:11049151 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FASLG Fas ligand ISO protein:increased expression:esophageal mucosa: RGD PMID:9605741 RGD:11049151 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917 		JBrowse link
G GNG7 G protein subunit gamma 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18219292 NCBI chr 2:75,929,877...76,083,557
Ensembl chr 2:76,039,656...76,083,555 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:68,052,086...68,680,448
Ensembl chr 1:68,057,538...68,679,256 		JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 PMID:35917945 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951 		JBrowse link
G LOC100512795 alcohol dehydrogenase class 4 mu/sigma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 8:121,020,683...121,041,735
Ensembl chr 8:121,020,969...121,041,506 		JBrowse link
G LOC100737977 tumor necrosis factor receptor superfamily member 10B-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr14:7,344,788...7,371,086 JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:4,344,496...4,404,208
Ensembl chr14:4,346,480...4,404,168 		JBrowse link
G MACIR macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:108,733,347...108,753,276
Ensembl chr 2:108,733,357...108,753,275 		JBrowse link
G MAP3K3 mitogen-activated protein kinase kinase kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr12:15,228,979...15,298,784
Ensembl chr12:15,230,182...15,298,784 		JBrowse link
G MARCHF8 membrane associated ring-CH-type finger 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr14:90,725,550...90,854,835
Ensembl chr14:90,725,574...90,854,828 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22042947 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211 		JBrowse link
G MIR21 microRNA mir-21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MIR98 microRNA mir-98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270317 NCBI chr  X:46,302,381...46,302,460
Ensembl chr  X:46,302,381...46,302,460 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22844359 RGD:7207890 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264214 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112 		JBrowse link
G PHB1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr12:25,596,520...25,609,693
Ensembl chr12:25,596,523...25,609,706 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,395...165,861,442 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 2:66,207,829...66,211,474
Ensembl chr 2:66,207,828...66,212,009 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189197 NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035 		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 chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G RNF6 ring finger protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:4,020,752...4,033,040
Ensembl chr11:4,020,852...4,031,787 		JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr15:61,140,687...61,143,397
Ensembl chr15:61,140,688...61,142,607 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18058463 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026 		JBrowse link
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:84,188,521...84,189,824
Ensembl chr 6:84,188,445...84,189,827 		JBrowse link
G SLC30A7 solute carrier family 30 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 4:117,320,229...117,396,383
Ensembl chr 4:117,314,845...117,396,495 		JBrowse link
G SMYD2 SET and MYND domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25825497 NCBI chr 9:129,263,524...129,316,226
Ensembl chr 9:129,263,526...129,316,349 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 4:79,264,880...79,268,475
Ensembl chr 4:79,264,880...79,268,475 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11053990 PMID:15986332 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr13:125,337,560...125,338,742
Ensembl chr13:125,337,418...125,338,850 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789724 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
G TGM2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr17:41,186,765...41,221,686
Ensembl chr17:41,186,770...41,221,637 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:esophageal mucosa:		 CTD
RGD		 PMID:12706858 PMID:16778087 PMID:17634542 PMID:26192916 PMID:26439224 RGD:11075085 RGD:8547873 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 2:61,453,721...61,476,781
Ensembl chr 2:61,453,725...61,476,781 		JBrowse link
G TRMT11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:36,930,857...37,002,079
Ensembl chr 1:36,940,334...37,002,056 		JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 3:18,521,119...18,524,705
Ensembl chr 3:18,521,128...18,524,959 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15930319 NCBI chr 8:32,353,766...32,367,288
Ensembl chr 8:32,353,246...32,367,332 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr 5:29,450,442...29,543,913
Ensembl chr 5:29,450,442...29,543,913 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:17611394 NCBI chr  X:101,399,374...101,440,021
Ensembl chr  X:101,399,812...101,440,013 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21347786
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 ISO RGD PMID:18059332 RGD:13782259 NCBI chr14:104,561,394...104,567,099
Ensembl chr14:104,563,195...104,567,095 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO DNA:hypermethylation
DNA:hypermethylation:promoter		 RGD PMID:16229808 PMID:18664505 RGD:151665354 RGD:151665749 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G GPX7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 6:159,590,479...159,598,768
Ensembl chr 6:159,590,482...159,599,293 		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
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 chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124 		JBrowse link
G BHLHE41 basic helix-loop-helix family member e41 ISO protein:increased expression:esophagus(human) RGD PMID:29890466 RGD:151665308 NCBI chr 5:47,687,662...47,692,761
Ensembl chr 5:47,686,404...47,692,762 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 PMID:31911673 NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO RGD PMID:9863006 RGD:2289811 NCBI chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:11833070 PMID:26782562 RGD:11554919 RGD:14700950 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		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 chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363 		JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096 		JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 NCBI chr13:22,873,210...22,964,971
Ensembl chr13:22,882,629...22,964,677 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:29660336 RGD:21409755 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO DNA:hypermethylation RGD PMID:33292587 RGD:151665781 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:esophagus RGD PMID:20498946 RGD:4145286
G IL10 interleukin 10 treatment ISO RGD PMID:26603620 RGD:152998997 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 susceptibility ISO DNA:SNP:cds:rs11674595|rs2072472 (human) RGD PMID:31744444 RGD:152998961 NCBI chr 3:52,367,434...52,406,393
Ensembl chr 3:52,367,437...52,406,334 		JBrowse link
G IL5 interleukin 5 treatment ISO RGD PMID:20232121 RGD:5134997 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212 		JBrowse link
G LOC110258578 interleukin-1 beta-like treatment ISO RGD PMID:26603620 RGD:152998997
G LZTS1 leucine zipper tumor suppressor 1 ISO esophageal squamous cell carcinoma, OMIM:133239 RGD PMID:10097140 RGD:1600104 NCBI chr14:4,344,496...4,404,208
Ensembl chr14:4,346,480...4,404,168 		JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,782...8,485,030 		JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:29660336 RGD:21409755 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:blood serum (human)
RNA:increased expression:esophagus (human)		 RGD PMID:22638884 PMID:27188433 RGD:152995510 RGD:152998900 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MXI1 MAX interactor 1, dimerization protein ISO RGD PMID:10849326 RGD:1298988 NCBI chr14:120,643,691...120,722,632
Ensembl chr14:120,643,830...120,724,099 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA:splice variants:esophagus (human) RGD PMID:24527027 RGD:150519911 NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109 		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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		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 chr14:99,929,590...100,021,619 JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA,protein:decreased expression:esophagus: RGD PMID:33862112 RGD:151232285 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967 		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 chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		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 chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822 		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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		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 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053 		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 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729 		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
G BIRC7 baculoviral IAP repeat containing 7 disease_progression ISO mRNA:increased expression:esophagus (human) RGD PMID:31964418 RGD:153344516 NCBI chr17:62,351,663...62,356,220 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 chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		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 chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Esophageal carcinoma, somatic ClinVar PMID:8187090 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096 		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 chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:26619011 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760 		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 chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		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 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348 		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 chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G GRB7 growth factor receptor bound protein 7 exacerbates ISO mRNA:increased expression:esophagus mucosa (human) RGD PMID:8988034 RGD:151347660 NCBI chr12:22,574,579...22,583,386
Ensembl chr12:22,574,584...22,582,345 		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 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G HTRA1 HtrA serine peptidase 1 disease_progression ISO mRNA,protein:decreased expression:esophagus (human) RGD PMID:22935172 RGD:152985525 NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		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 chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148 		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 chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		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 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 exacerbates ISO mRNA:decreased expression:espohagus (human) RGD PMID:32831056 RGD:155630592 NCBI chr 2:71,299,010...71,308,432
Ensembl chr 2:71,298,325...71,308,124 		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 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078 		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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:26619011 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 severity ISO RGD PMID:15906366 RGD:151361282 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285 		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 chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		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 chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23525077 PMID:31906887 RGD:127285649 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349 		JBrowse link
G BARX1 BARX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr 3:43,284,609...43,288,269
Ensembl chr 3:43,284,464...43,288,281 		JBrowse link
G BCL2 BCL2 apoptosis regulator onset ISO DNA:SNPs:3'utr: (rs720321, rs17757541) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BECN1 beclin 1 ISO RGD PMID:22301112 RGD:11561943 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 treatment ISO RGD PMID:26291056 RGD:152999007 NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242 		JBrowse link
G CASP8 caspase 8 onset ISO DNA:SNP:5'utr: (rs1035142) (human) RGD PMID:21472143 RGD:126925218 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		JBrowse link
G CDC5L cell division cycle 5 like disease_progression ISO protein:increased expression:esophageal mucosa (human) RGD PMID:15725809 RGD:10047052 NCBI chr 7:39,384,397...39,427,729
Ensembl chr 7:39,384,556...39,431,248 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr 2:59,069,334...59,157,196
Ensembl chr 2:59,069,335...59,157,176 		JBrowse link
G CTSB cathepsin B ISO RGD PMID:9770500 RGD:734853 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877 		JBrowse link
G CYP19A3 cytochrome P450 19A3 onset ISO DNA:SNP:5'utr: (rs2445762) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899 		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 chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363 		JBrowse link
G DOCK2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr16:53,843,248...54,248,708
Ensembl chr16:53,843,252...54,248,638 		JBrowse link
G ELMO1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr18:36,755,026...37,336,095
Ensembl chr18:36,786,378...37,347,283 		JBrowse link
G EMX2 empty spiracles homeobox 2 ISO protein:decreased expression:esophagus (human) RGD PMID:31432154 RGD:153323302 NCBI chr14:127,649,675...127,656,972
Ensembl chr14:127,650,688...127,655,706 		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 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		JBrowse link
G FAS Fas cell surface death receptor ISO associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human) RGD PMID:10340890 RGD:8662425 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FOXA1 forkhead box A1 ISO protein:increased expression:esophagus RGD PMID:12234996 RGD:151665758 NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220 		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 chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide onset ISO DNA:SNP:5'utr: (rs696217) (human) RGD PMID:21472143 RGD:126925218 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917 		JBrowse link
G GPX3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs:intron: (rs4958872, rs3792797) (human) RGD PMID:22715394 RGD:152995500 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		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 chr12:22,574,579...22,583,386
Ensembl chr12:22,574,584...22,582,345 		JBrowse link
G KDR kinase insert domain receptor onset ISO DNA:SNP:5'utr: (rs11941492) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G LOC100737977 tumor necrosis factor receptor superfamily member 10B-like onset ISO DNA:SNP:3'utr: (rs11775256) (human) RGD PMID:21472143 RGD:126925218 NCBI chr14:7,344,788...7,371,086 JBrowse link
G MIR21 microRNA mir-21 disease_progression ISO RGD PMID:26481465 RGD:41404702 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MMP1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679 		JBrowse link
G MMP14 matrix metallopeptidase 14 onset ISO DNA:SNP:5'utr: (rs2236302) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO DNA:insertion:promoter:g.-1613insA rs3025058 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:esophagus RGD PMID:25562781 RGD:13204790 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NELL1 neural EGFL like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452981 NCBI chr 2:37,809,080...38,754,520
Ensembl chr 2:37,809,008...38,754,525 		JBrowse link
G NOS3 nitric oxide synthase 3 onset ISO DNA:SNP:3'utr: (rs2070744) (human) RGD PMID:21472143 RGD:126925218 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO mRNA,protein:increased expression:Esophagus RGD PMID:22165968 RGD:5687745 NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: esophagus
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12055587 PMID:12507933 RGD:13207437 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 disease_progression ISO DNA:hypermethylation: (human) RGD PMID:23243219 RGD:150557426 NCBI chr 2:2,032,370...2,055,756
Ensembl chr 2:2,028,396...2,055,750 		JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 PMID:24952744 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898 		JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:17785574 RGD:2317403 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SPART spartin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr11:12,313,211...12,346,226
Ensembl chr11:12,313,335...12,346,204 		JBrowse link
G TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G VDR vitamin D receptor susceptibility
disease_progression		 ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
DNA:amplication: :		 RGD PMID:24951052 PMID:25910066 RGD:11055189 RGD:13432070 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
esophagus small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110255312 keratin, type I cytoskeletal 14 ISO protein:increased expression:esophagus RGD PMID:16140947 RGD:1600174 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		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 chr14:110,955,698...111,038,898
Ensembl chr14:110,955,582...111,038,898 		JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:105,414,628...105,422,294
Ensembl chr 6:105,414,631...105,422,294 		JBrowse link
G AJUBA ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 7:76,063,009...76,072,884
Ensembl chr 7:76,063,058...76,076,585 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 disease_progression ISO protein:increased expression:esophagus (human) RGD PMID:32642408 RGD:152995512
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124 		JBrowse link
G ANXA1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279 		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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,635 		JBrowse link
G AXIN1 axin 1 disease_progression ISO protein:decreased expression:esophagus (human) RGD PMID:12771989 RGD:150530473 NCBI chr 3:41,344,908...41,393,999
Ensembl chr 3:41,337,071...41,393,997 		JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding disease_progression ISO RGD PMID:28053542 RGD:153350138 NCBI chr 3:7,867,521...7,874,857 JBrowse link
G AZIN1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr 4:34,221,368...34,257,261
Ensembl chr 4:34,234,679...34,257,134 		JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582 		JBrowse link
G BLVRB biliverdin reductase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:48,715,540...48,728,433
Ensembl chr 6:48,715,199...48,728,389 		JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:21165554 RGD:126781701 NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564 		JBrowse link
G BMP6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr 7:5,058,817...5,208,868
Ensembl chr 7:5,058,817...5,210,270 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
G BST2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,283...60,309,697 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794 		JBrowse link
G CA1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 4:51,343,548...51,353,127
Ensembl chr 4:51,302,406...51,353,126 		JBrowse link
G CA12 carbonic anhydrase 12 severity ISO RGD PMID:26316888 RGD:155226859 NCBI chr 1:108,649,277...108,710,658
Ensembl chr 1:108,649,271...108,710,651 		JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259 		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 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132 		JBrowse link
G CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 4:107,769,570...107,821,806
Ensembl chr 4:107,768,079...107,821,819 		JBrowse link
G CASP8 caspase 8 exacerbates ISO mRNA,protein:decreased expression:esophagus squamous epithelium (human) RGD PMID:31885720 RGD:153300949 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		JBrowse link
G CBX8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr12:2,562,419...2,565,035
Ensembl chr12:2,562,374...2,565,780 		JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 7:23,543,919...23,558,150
Ensembl chr 7:23,543,752...23,558,052 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056 		JBrowse link
G CFL1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035 		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 chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841 		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 chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO mRNA:increased expression:esophagus (human) RGD PMID:27610024 RGD:151361143 NCBI chr 7:47,338,819...47,359,064 JBrowse link
G CLIC1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 7:23,842,829...23,851,162 JBrowse link
G CLPTM1L CLPTM1 like no_association
susceptibility		 ISO mRNA:increased expression:esophagus
DNA:SNP: :rs401681(human)
DNA:SNP: :rs451360(human)		 RGD PMID:24386361 PMID:25007268 PMID:25480402 PMID:26716642 RGD:11572962 RGD:150530488 RGD:150530497 RGD:150537098 NCBI chr16:79,237,000...79,248,503
Ensembl chr16:79,237,061...79,248,500 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain disease_progression ISO DNA:hypermethylation RGD PMID:25050929 RGD:151665741 NCBI chr 4:18,690,197...18,925,111
Ensembl chr 4:18,690,198...18,924,971 		JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr 7:47,602,316...47,608,865
Ensembl chr 7:47,602,192...47,608,970 		JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:32038997 RGD:150524298 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633 		JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646 		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 chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		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 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		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 chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		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 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		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 chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 3:70,573,551...70,593,416
Ensembl chr 3:70,572,197...70,593,408 		JBrowse link
G DAB2IP DAB2 interacting protein severity ISO protein:decreased expression:esophagus (human) RGD PMID:30464518 RGD:151665168 NCBI chr 1:261,732,280...261,859,833
Ensembl chr 1:261,659,785...261,859,830 		JBrowse link
G DCC DCC netrin 1 receptor ISO OMIM NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096 		JBrowse link
G DIDO1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr17:62,126,026...62,174,095
Ensembl chr17:62,125,122...62,174,071 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072 		JBrowse link
G DPP4 dipeptidyl peptidase 4 ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr15:68,661,764...68,742,961
Ensembl chr15:68,660,521...68,743,663 		JBrowse link
G EFNB2 ephrin B2 ameliorates
severity
exacerbates		 ISO human cells in mouse model
mRNA:increased expression:esophagus squamous epithelium (human)
mRNA,protein:increased expression:esophagus squamous epithelium (human)		 RGD PMID:17611172 PMID:29190834 PMID:31885720 RGD:153300947 RGD:153300948 RGD:153300949 NCBI chr11:74,188,337...74,232,768
Ensembl chr11:74,186,640...74,233,354 		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 chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 disease_progression ISO protein:increased expression:esophagus mucosa:
protein:increased expression:esophagus:		 RGD PMID:24649311 PMID:24805087 RGD:9589143 RGD:9590071
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,992,697 		JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760 		JBrowse link
G EPB41L3 erythrocyte membrane protein band 4.1 like 3 disease_progression ISO DNA:hypermethylation RGD PMID:25050929 RGD:151665741 NCBI chr 6:101,420,376...101,671,177
Ensembl chr 6:101,420,396...101,671,169 		JBrowse link
G EPHB4 EPH receptor B4 exacerbates ISO mRNA,protein:increased expression:esophagus squamous epithelium (human) RGD PMID:31885720 RGD:153300949 NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 susceptibility
disease_progression		 ISO DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
protein:altered localization:nucleus		 RGD PMID:18000820 PMID:24916311 RGD:126781764 RGD:126781765 NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		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 chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941 		JBrowse link
G FANCA FA complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152 		JBrowse link
G FAP fibroblast activation protein alpha ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr15:68,831,281...68,902,416
Ensembl chr15:68,830,730...68,902,379 		JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr12:922,405...937,560
Ensembl chr12:920,509...937,561 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:esophagus squamous epithelium (human)
protein:decreased expression:esophagus squamous epithelium (human)		 CTD
RGD		 PMID:24590895 PMID:25151357 PMID:29365412 RGD:151347630 RGD:151347646 NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715 		JBrowse link
G FAT2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr16:71,448,491...71,531,664
Ensembl chr16:71,469,847...71,530,501 		JBrowse link
G FAT3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 9:24,772,394...25,476,424 JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348 		JBrowse link
G FES FES proto-oncogene, tyrosine kinase exacerbates ISO DNA:hypermethylation: (human) RGD PMID:24936140 RGD:153323298 NCBI chr 7:53,472,947...53,485,084
Ensembl chr 7:53,472,947...53,485,082 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 treatment ISO RGD PMID:25989802 RGD:150520041 NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796 		JBrowse link
G FKBP1A FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:33,910,047...33,935,212 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 chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220 		JBrowse link
G FUBP1 far upstream element binding protein 1 exacerbates ISO mRNA:increased expression:esophagus (human)
protein:increased expression:esophagus (human)		 RGD PMID:26490982 PMID:32481602 RGD:151361192 RGD:151361197 NCBI chr 6:135,281,474...135,319,055
Ensembl chr 6:135,281,521...135,318,714 		JBrowse link
G GDI2 GDP dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:65,160,700...65,196,447
Ensembl chr10:65,160,653...65,196,447 		JBrowse link
G GLO1 glyoxalase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 7:34,156,194...34,183,560
Ensembl chr 7:34,157,535...34,183,528 		JBrowse link
G GPX3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation RGD PMID:25050929 PMID:30018730 RGD:151665494 RGD:151665741 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		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 chr12:22,574,579...22,583,386
Ensembl chr12:22,574,584...22,582,345 		JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr14:115,206,434...115,216,624
Ensembl chr14:115,206,188...115,216,613 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G HMGB1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:7,195,556...7,321,071 JBrowse link
G HMGN5 high mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28914995 NCBI chr  X:64,541,310...64,617,345 JBrowse link
G HOXB7 homeobox B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr12:24,861,165...24,864,675
Ensembl chr12:24,861,174...24,864,620 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894 		JBrowse link
G HTRA1 HtrA serine peptidase 1 ameliorates
exacerbates		 ISO human gene and cells in mouse model
mRNA,protein:decreased expression:epithelium of esophagus (human)		 RGD PMID:23079781 RGD:152975633 NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 severity ISO human cells in mouse model RGD PMID:32367071 RGD:149735568 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G JAK2 Janus kinase 2 severity ISO protein:increased phosphorylation:esophagus squamous epithelium (human) RGD PMID:32158193 RGD:127285669 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148 		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 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002 		JBrowse link
G KAT2B lysine acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr13:6,985,151...7,099,771
Ensembl chr13:6,985,235...7,100,345 		JBrowse link
G KDM4C lysine demethylase 4C susceptibility
severity		 ISO DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
protein:increased expression:esophageal epithelium, nucleus (human)		 RGD PMID:15805246 PMID:24224128 RGD:9587746 RGD:9587752 NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,419...215,507,800 		JBrowse link
G KDM5B lysine demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr10:24,739,115...24,831,537
Ensembl chr10:24,736,838...24,831,447 		JBrowse link
G KDM6A lysine demethylase 6A ameliorates ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:esophagus (human)
protein:increased expression:esophagus (human)
DNA:mutations:multiple (human)		 CTD
RGD		 PMID:25151357 PMID:29351209 PMID:31804468 RGD:150429739 RGD:150429742 RGD:9588233 NCBI chr  X:39,953,764...40,154,197
Ensembl chr  X:39,953,814...40,154,029 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 CTD
RGD		 PMID:25151357 RGD:9588233 NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723 		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 chr 5:15,049,827...15,091,622 JBrowse link
G KRT19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:21,115,453...21,119,115
Ensembl chr12:21,115,448...21,119,107 		JBrowse link
G KRT7 keratin 7 disease_progression ISO RGD PMID:29788741 RGD:151665759 NCBI chr 5:17,553,192...17,570,582
Ensembl chr 5:17,555,728...17,570,581 		JBrowse link
G LOC100515166 keratin, type I cytoskeletal 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:21,139,296...21,143,556 JBrowse link
G LOC100737030 keratin, type I cytoskeletal 42 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:21,014,182...21,022,123 JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,867...7,540,704 		JBrowse link
G LTA lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
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 chr14:4,344,496...4,404,208
Ensembl chr14:4,346,480...4,404,168 		JBrowse link
G MAD2L1 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 8:103,927,358...103,936,669
Ensembl chr 8:103,927,353...103,936,664 		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 chr16:35,872,301...35,947,097
Ensembl chr16:35,872,131...35,946,987 		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 chr13:68,816,677...68,828,559
Ensembl chr13:68,816,679...68,828,580 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, esophagus		 CTD
RGD		 PMID:21674174 PMID:25520135 RGD:126790574 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540 		JBrowse link
G MIR10A microRNA mir-10a ISO miRNA:increased expression:esophagus squamous epithelium (human) RGD PMID:32997362 RGD:153323343 NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730 		JBrowse link
G MIR127 microRNA mir-127 ISO RNA:decreased expression:esophagus (human) RGD PMID:27645894 RGD:152995354 NCBI chr 7:121,709,636...121,709,715
Ensembl chr 7:121,709,640...121,709,720 		JBrowse link
G MIR193A microRNA mir-193a exacerbates ISO miRNA:decreased expression:esophagus (human) RGD PMID:27203740 RGD:153323341 NCBI chr12:43,336,969...43,337,048
Ensembl chr12:43,336,969...43,337,048 		JBrowse link
G MIR217-1 microRNA mir-217-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr 3:85,341,255...85,341,361
Ensembl chr 3:85,341,255...85,341,361 		JBrowse link
G MIR31 microRNA mir-31 ameliorates ISO RGD PMID:21658006 PMID:32123074 RGD:127285381 RGD:152998938 NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809 		JBrowse link
G MIR423 microRNA mir-423 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr12:46,211,525...46,211,604
Ensembl chr12:46,211,525...46,211,611 		JBrowse link
G MIR432 microRNA mir-432 ISO mRNA:increased expression:esophagus (human) RGD PMID:28760781 RGD:153002560 NCBI chr 7:121,711,137...121,711,216
Ensembl chr 7:121,711,137...121,711,216 		JBrowse link
G MLH1 mutL homolog 1 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus RGD PMID:21674174 RGD:126790574 NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased activity: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		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 chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO mRNA, protein:decreased expression:esophagus (human) RGD PMID:33833989 RGD:153344568 NCBI chr 3:18,052,679...18,056,920
Ensembl chr 3:18,052,935...18,056,837 		JBrowse link
G PBX3 PBX homeobox 3 ISO RNA:increased expression:esophagus squamous epithelium (human) RGD PMID:32449803 RGD:153345544 NCBI chr 1:266,383,311...266,610,646
Ensembl chr 1:266,382,640...266,610,640 		JBrowse link
G PFN1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,952...51,965,464 		JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr14:105,422,628...105,764,736
Ensembl chr14:105,458,916...105,764,737 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,395...165,861,442 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 disease_progression ISO RGD PMID:19492245 RGD:6482249 NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,072,323...25,078,322 		JBrowse link
G PSME1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 7:75,161,830...75,164,531
Ensembl chr 7:75,160,766...75,164,810 		JBrowse link
G PSME2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 7:75,154,570...75,157,871
Ensembl chr 7:75,153,965...75,157,870 		JBrowse link
G PTCH1 patched 1 disease_progression ISO RGD PMID:16475698 RGD:150523841 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		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 chr17:44,717,539...45,880,822
Ensembl chr17:44,714,645...45,881,041 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		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 chr16:24,109,934...24,250,019
Ensembl chr16:24,109,939...24,311,132 		JBrowse link
G RNF6 ring finger protein 6 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar
OMIM		 PMID:12154016 NCBI chr11:4,020,752...4,033,040
Ensembl chr11:4,020,852...4,031,787 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO DNA:SNP: :rs2014300 (human) RGD PMID:30666517 RGD:126775149 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO mRNA:increased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687 		JBrowse link
G RUNX3 RUNX family transcription factor 3 disease_progression ISO mRNA:decreased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190 		JBrowse link
G SETD5 SET domain containing 5 disease_progression ISO RGD PMID:31981592 RGD:155804254 NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506 		JBrowse link
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:84,188,521...84,189,824
Ensembl chr 6:84,188,445...84,189,827 		JBrowse link
G SLC16A10 solute carrier family 16 member 10 ISO protein:increased expression:esophagus RGD PMID:33609949 RGD:151361149 NCBI chr 1:76,998,359...77,139,534
Ensembl chr 1:76,998,359...77,138,639 		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 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459 		JBrowse link
G SLC39A6 solute carrier family 39 member 6 ISO CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr 6:119,861,853...119,885,836
Ensembl chr 6:119,861,846...119,885,378 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr17:34,459,291...34,481,022
Ensembl chr17:34,459,359...34,481,026 		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 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285 		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 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435 		JBrowse link
G SPEN spen family transcriptional repressor ISO associated with Neoplasm Metastasis; DNA:mutations RGD PMID:33363385 RGD:151347445 NCBI chr 6:75,015,565...75,107,468
Ensembl chr 6:75,015,521...75,107,033 		JBrowse link
G STIM1 stromal interaction molecule 1 exacerbates ISO protein:increased expression:esophagus (human) RGD PMID:31843504 RGD:152995393 NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198 		JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:44,561,756...44,567,385
Ensembl chr 9:44,560,785...44,567,385 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,768...25,074,843 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922 		JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,502,715...47,515,965 		JBrowse link
G TERT telomerase reverse transcriptase susceptibility
no_association		 ISO DNA:SNPs: : rs2853691,rs2736100(human)
mRNA:increased expression:esophagus squamous epithelium:
DNA:SNP: :rs2736098(human)		 RGD PMID:15112252 PMID:25007268 PMID:26716642 RGD:11572962 RGD:150530488 RGD:152977757 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 severity ISO DNA:mutations
mRNA:decreased expression:esophagus squamous epithelium (human)
associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)		 RGD PMID:26093090 PMID:26873401 PMID:27050164 RGD:11528815 RGD:150429656 RGD:150429668 NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:27050164 RGD:150429668 NCBI chr 3:68,918,896...69,020,406
Ensembl chr 3:68,918,933...69,020,986 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO OMIM NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		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 chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822 		JBrowse link
G TNFAIP8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr 2:123,152,349...123,285,154
Ensembl chr 2:123,152,371...123,287,941 		JBrowse link
G TNXB tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,881...24,150,596 		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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,838,506...63,843,134 		JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TPM2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905 		JBrowse link
G TXNDC17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:50,734,669...50,737,309
Ensembl chr12:50,734,619...50,737,078 		JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35022897 NCBI chr 1:121,306,031...121,376,154
Ensembl chr 1:121,306,032...121,413,223 		JBrowse link
G VENTX VENT homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr14:141,265,966...141,271,379 JBrowse link
G WRAP53 WD repeat containing antisense to TP53 disease_progression ISO RGD PMID:24626331 RGD:21081532 NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,968,364 		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 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053 		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 chr 3:80,255,016...80,300,260
Ensembl chr 3:80,255,146...80,300,327 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 no_association
susceptibility
treatment		 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds: p.R399Q (human)
DNA:SNPs,haplotypes:multiple (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 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729 		JBrowse link
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 chr12:5,008,534...5,036,278
Ensembl chr12:5,010,178...5,036,255 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    disease of anatomical entity 15084
      gastrointestinal system disease 6548
        esophageal disease 485
          Esophageal Neoplasms 282
            Leiomyoma of Vulva and Esophagus 0
            esophageal cancer + 238
            esophageal lipoma 0
            esophagus adenocarcinoma + 46
            esophagus leiomyoma 0
            esophagus squamous cell papilloma 0
Path 2
Term Annotations click to browse term
  disease 15390
    disease of anatomical entity 15084
      gastrointestinal system disease 6548
        Digestive System Neoplasms 3683
          Gastrointestinal Neoplasms 3570
            Esophageal Neoplasms 282
              Leiomyoma of Vulva and Esophagus 0
              esophageal cancer + 238
              esophageal lipoma 0
              esophagus adenocarcinoma + 46
              esophagus leiomyoma 0
              esophagus squamous cell papilloma 0
paths to the root