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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 chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307 		JBrowse link
G ACTB actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G AKAP13 A-kinase anchoring protein 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 3:49,076,313...49,310,564
Ensembl chr 3:49,076,642...49,308,221 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:8850269 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406566 NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119 		JBrowse link
G AQP3 aquaporin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr11:50,517,509...50,524,565 JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464 		JBrowse link
G BBC3 BCL2 binding component 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16481741 NCBI chr 1:108,742,793...108,750,832
Ensembl chr 1:108,741,713...108,749,946 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BCL2A1 BCL2 related protein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 3:57,451,512...57,463,692
Ensembl chr 3:57,424,555...57,463,692 		JBrowse link
G BSG basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061 		JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17450141 PMID:21472143 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12235107 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005 		JBrowse link
G CCNH cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315 		JBrowse link
G CDH13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:11903577 RGD:8662379 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		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 chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CRYAB crystallin alpha B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7692001 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353 		JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr28:7,423,955...7,432,359
Ensembl chr28:7,428,772...7,432,370 		JBrowse link
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967 		JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21298351 PMID:21468131 PMID:22042947 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G ENO1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22042947 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:decreased expression:esophageal mucosa: RGD PMID:9605741 RGD:11049151 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FASLG Fas ligand ISO protein:increased expression:esophageal mucosa: RGD PMID:9605741 RGD:11049151 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510 		JBrowse link
G GNG7 G protein subunit gamma 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18219292 NCBI chr20:56,479,337...56,603,972 JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr12:58,932,754...59,991,305
Ensembl chr12:59,355,017...59,990,408 		JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 PMID:35917945 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705 		JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:36,764,235...36,814,204
Ensembl chr25:36,744,061...36,811,972 		JBrowse link
G MACIR macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 3:7,956,865...7,968,964 JBrowse link
G MAP3K3 mitogen-activated protein kinase kinase kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 9:11,612,527...11,678,407
Ensembl chr 9:11,612,994...11,675,838 		JBrowse link
G MARCHF8 membrane associated ring-CH-type finger 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr28:2,006,923...2,165,491
Ensembl chr28:2,072,181...2,161,981 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22042947 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210 		JBrowse link
G MIR200C microRNA mir-200c ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr27:38,082,097...38,082,159
Ensembl chr27:38,082,091...38,082,169 		JBrowse link
G MIR21 microRNA mir-21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MIR98 microRNA mir-98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270317 NCBI chr  X:45,253,693...45,253,772
Ensembl chr  X:45,253,696...45,253,775 		JBrowse link
G MLH3 mutL homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16981255 NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122 		JBrowse link
G MT1E metallothionein 1E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22844359 RGD:7207890 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264214 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347 		JBrowse link
G PHB1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189197 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:SNPs: :-1195A > G, -765G > C (human)
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:Esophagus		 RGD
CTD		 PMID:11059772 PMID:16083713 PMID:16322294 PMID:17707579 PMID:22165968 RGD:5135528 RGD:5687745 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G RNF6 ring finger protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:13,199,201...13,240,347
Ensembl chr25:13,199,397...13,207,497 		JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18058463
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537 		JBrowse link
G SLC30A7 solute carrier family 30 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 6:49,142,520...49,232,251
Ensembl chr 6:49,147,142...49,232,241 		JBrowse link
G SMYD2 SET and MYND domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25825497 NCBI chr 7:12,281,581...12,331,294
Ensembl chr 7:12,281,710...12,331,164 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr29:1,154,132...1,156,653
Ensembl chr29:1,154,036...1,156,653 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11053990 PMID:15986332 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr34:20,063,091...20,064,520
Ensembl chr34:20,063,090...20,064,557 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789724 NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636 		JBrowse link
G TGM2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr24:26,631,339...26,662,723
Ensembl chr24:26,628,009...26,663,840 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr20:46,354,808...46,376,489
Ensembl chr20:46,355,736...46,376,425 		JBrowse link
G TRMT11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:64,861,404...64,917,449
Ensembl chr 1:64,834,770...65,064,562 		JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:18,357,223...18,360,929
Ensembl chr 6:18,357,244...18,361,557 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15930319 NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:17611394 NCBI chr  X:95,300,234...95,356,103
Ensembl chr  X:95,331,827...95,351,582 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21347786 NCBI chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408 		JBrowse link
Barrett's adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO RGD PMID:18059332 RGD:13782259 NCBI chr28:7,423,955...7,432,359
Ensembl chr28:7,428,772...7,432,370 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO DNA:hypermethylation
DNA:hypermethylation:promoter		 RGD PMID:16229808 PMID:18664505 RGD:151665354 RGD:151665749 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		JBrowse link
G GPX7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr15:8,777,626...8,784,409 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 chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		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 chr26:9,319,109...9,361,021 JBrowse link
G BHLHE41 basic helix-loop-helix family member e41 ISO protein:increased expression:esophagus(human) RGD PMID:29890466 RGD:151665308 NCBI chr27:21,464,302...21,469,119 JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 PMID:31911673 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO RGD PMID:9863006 RGD:2289811 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:11833070 PMID:26782562 RGD:11554919 RGD:14700950 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		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 chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216 		JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967 		JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 NCBI chr23:7,813,305...7,889,322
Ensembl chr23:7,813,546...7,889,324 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:29660336 RGD:21409755 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO DNA:hypermethylation RGD PMID:33292587 RGD:151665781 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:esophagus RGD PMID:20498946 RGD:4145286 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:26603620 RGD:152998997 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL1B interleukin 1 beta treatment ISO RGD PMID:26603620 RGD:152998997 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 susceptibility ISO DNA:SNP:cds:rs11674595|rs2072472 (human) RGD PMID:31744444 RGD:152998961 NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113 		JBrowse link
G IL5 interleukin 5 treatment ISO RGD PMID:20232121 RGD:5134997 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269 		JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 ISO esophageal squamous cell carcinoma, OMIM:133239 RGD PMID:10097140 RGD:1600104 NCBI chr25:36,764,235...36,814,204
Ensembl chr25:36,744,061...36,811,972 		JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735 		JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:29660336 RGD:21409755 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		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 chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MXI1 MAX interactor 1, dimerization protein ISO RGD PMID:10849326 RGD:1298988 NCBI chr28:21,584,856...21,655,233
Ensembl chr28:21,584,638...21,652,920 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA:splice variants:esophagus (human) RGD PMID:24527027 RGD:150519911 NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534 		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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		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 chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA,protein:decreased expression:esophagus: RGD PMID:33862112 RGD:151232285 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557 		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 chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity
disease_progression		 ISO DNA:SNP:3'utr: (rs583522) (human)
DNA:SNP:intron 6: (rs610604) (human)		 RGD PMID:25354935 PMID:26598072 RGD:11075880 RGD:151347597 NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		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 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406 		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 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816 		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 chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 disease_progression ISO mRNA:increased expression:esophagus (human) RGD PMID:31964418 RGD:153344516 NCBI chr24:46,950,700...46,956,375
Ensembl chr24:46,952,474...46,955,495 		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 chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		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 chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Esophageal carcinoma, somatic ClinVar PMID:8187090 NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967 		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 chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:26619011 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		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 chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		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 chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195 		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 chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G GRB7 growth factor receptor bound protein 7 exacerbates ISO mRNA:increased expression:esophagus mucosa (human) RGD PMID:8988034 RGD:151347660 NCBI chr 9:22,743,370...22,751,936
Ensembl chr 9:22,743,402...22,750,896 		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 chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G HTRA1 HtrA serine peptidase 1 disease_progression ISO mRNA,protein:decreased expression:esophagus (human) RGD PMID:22935172 RGD:152985525 NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409 		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 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 exacerbates ISO mRNA:decreased expression:espohagus (human) RGD PMID:32831056 RGD:155630592 NCBI chr20:52,594,450...52,604,236
Ensembl chr20:52,594,536...52,602,150 		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 chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309 		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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:26619011 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 severity ISO RGD PMID:15906366 RGD:151361282 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858 		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 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		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 chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		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 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307 		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 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G BARX1 BARX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr 1:98,036,444...98,039,818
Ensembl chr 1:98,036,227...98,039,845 		JBrowse link
G BCL2 BCL2 apoptosis regulator onset ISO DNA:SNPs:3'utr: (rs720321, rs17757541) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BECN1 beclin 1 ISO RGD PMID:22301112 RGD:11561943 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 treatment ISO RGD PMID:26291056 RGD:152999007 NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240 		JBrowse link
G CASP8 caspase 8 onset ISO DNA:SNP:5'utr: (rs1035142) (human) RGD PMID:21472143 RGD:126925218 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822 		JBrowse link
G CDC5L cell division cycle 5 like disease_progression ISO protein:increased expression:esophageal mucosa (human) RGD PMID:15725809 RGD:10047052 NCBI chr12:12,779,936...12,822,978
Ensembl chr12:12,780,010...12,822,801 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr20:44,315,021...44,394,385
Ensembl chr20:44,319,858...44,394,599 		JBrowse link
G CTSB cathepsin B ISO RGD PMID:9770500 RGD:734853 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801 		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 chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353 		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 chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216 		JBrowse link
G DOCK2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 4:41,779,950...42,177,957
Ensembl chr 4:41,780,436...42,235,177 		JBrowse link
G ELMO1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr14:48,163,218...48,610,626
Ensembl chr14:48,164,049...48,730,248 		JBrowse link
G EMX2 empty spiracles homeobox 2 ISO protein:decreased expression:esophagus (human) RGD PMID:31432154 RGD:153323302 NCBI chr28:28,002,966...28,009,955
Ensembl chr28:28,003,710...28,009,035 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human) RGD PMID:18478337 RGD:13207314 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602 		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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FOXA1 forkhead box A1 ISO protein:increased expression:esophagus RGD PMID:12234996 RGD:151665758 NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807 		JBrowse link
G FOXP1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism
DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)		 CTD
RGD		 PMID:24121790 PMID:26383589 RGD:11535321 NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide onset ISO DNA:SNP:5'utr: (rs696217) (human) RGD PMID:21472143 RGD:126925218 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510 		JBrowse link
G GPX3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs:intron: (rs4958872, rs3792797) (human) RGD PMID:22715394 RGD:152995500 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		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 chr 9:22,743,370...22,751,936
Ensembl chr 9:22,743,402...22,750,896 		JBrowse link
G KDR kinase insert domain receptor onset ISO DNA:SNP:5'utr: (rs11941492) (human) RGD PMID:21472143 RGD:126925218 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G MIR21 microRNA mir-21 disease_progression ISO RGD PMID:26481465 RGD:41404702 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MMP1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309 		JBrowse link
G MMP14 matrix metallopeptidase 14 onset ISO DNA:SNP:5'utr: (rs2236302) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122 		JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) ISO DNA:insertion:promoter:g.-1613insA rs3025058 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:esophagus RGD PMID:25562781 RGD:13204790 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G NELL1 neural EGFL like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452981 NCBI chr21:42,654,925...43,468,806
Ensembl chr21:42,656,339...43,468,806 		JBrowse link
G NOS3 nitric oxide synthase 3 onset ISO DNA:SNP:3'utr: (rs2070744) (human) RGD PMID:21472143 RGD:126925218 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO mRNA,protein:increased expression:Esophagus RGD PMID:22165968 RGD:5687745 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819 		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 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 disease_progression ISO DNA:hypermethylation: (human) RGD PMID:23243219 RGD:150557426 NCBI chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006 		JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 PMID:24952744 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033 		JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:17785574 RGD:2317403 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SPART spartin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr25:4,256,177...4,302,854
Ensembl chr25:4,232,533...4,316,363 		JBrowse link
G TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G VDR vitamin D receptor disease_progression
susceptibility		 ISO DNA:amplication: :
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) 		RGD PMID:24951052 PMID:25910066 RGD:11055189 RGD:13432070 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470 		JBrowse link
esophagus small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 ISO protein:increased expression:esophagus RGD PMID:16140947 RGD:1600174 NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564 		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 chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740 		JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 7:67,682,421...67,691,035 JBrowse link
G AJUBA ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:3,272,408...3,302,179
Ensembl chr 8:3,272,405...3,301,708 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 disease_progression ISO protein:increased expression:esophagus (human) RGD PMID:32642408 RGD:152995512 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ANXA1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011 		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 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504 		JBrowse link
G AXIN1 axin 1 disease_progression ISO protein:decreased expression:esophagus (human) RGD PMID:12771989 RGD:150530473 NCBI chr 6:40,155,797...40,218,330
Ensembl chr 6:40,158,244...40,218,343 		JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding disease_progression ISO RGD PMID:28053542 RGD:153350138 NCBI chr 6:9,622,991...9,629,154
Ensembl chr 6:9,622,992...9,629,154 		JBrowse link
G AZIN1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr13:4,363,996...4,396,069
Ensembl chr13:4,361,340...4,396,040 		JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997 		JBrowse link
G BLVRB biliverdin reductase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:113,244,484...113,258,170
Ensembl chr 1:113,244,503...113,258,073 		JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:21165554 RGD:126781701 NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613 		JBrowse link
G BMP6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BST2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052 		JBrowse link
G CA1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr29:31,858,644...31,868,135
Ensembl chr29:31,858,636...31,868,158 		JBrowse link
G CA12 carbonic anhydrase 12 severity ISO RGD PMID:26316888 RGD:155226859 NCBI chr30:27,903,460...27,957,162
Ensembl chr30:27,905,837...27,957,742 		JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579 		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 chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245 		JBrowse link
G CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:62,900,062...62,948,164
Ensembl chr17:62,901,422...62,948,084 		JBrowse link
G CASP8 caspase 8 exacerbates ISO mRNA,protein:decreased expression:esophagus squamous epithelium (human) RGD PMID:31885720 RGD:153300949 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822 		JBrowse link
G CBX8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr 9:1,839,701...1,842,355
Ensembl chr 9:1,839,096...1,843,099 		JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr12:842,093...855,014
Ensembl chr12:837,993...854,978 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CFL1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212 		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 chr13:38,343,966...38,355,534
Ensembl chr13:38,346,104...38,355,468 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit disease_progression
exacerbates		 ISO mRNA:increased expression:esophagus (human) RGD PMID:27610024 PMID:33603170 RGD:151361143 RGD:151667905 NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO mRNA:increased expression:esophagus (human) RGD PMID:27610024 RGD:151361143 NCBI chr13:38,312,537...38,327,242
Ensembl chr13:38,312,173...38,328,341 		JBrowse link
G CLIC1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:1,209,777...1,215,229
Ensembl chr12:1,209,780...1,215,229 		JBrowse link
G CLPTM1L CLPTM1 like susceptibility
no_association		 ISO DNA:SNP: :rs451360(human)
DNA:SNP: :rs401681(human)
mRNA:increased expression:esophagus		 RGD PMID:24386361 PMID:25007268 PMID:25480402 PMID:26716642 RGD:11572962 RGD:150530488 RGD:150530497 RGD:150537098 NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain disease_progression ISO DNA:hypermethylation RGD PMID:25050929 RGD:151665741 NCBI chr13:19,033,423...19,249,189
Ensembl chr13:19,011,897...19,248,568 		JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr 3:58,446,222...58,449,789 JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:32038997 RGD:150524298 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510 		JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma ClinVar PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO mRNA:increased expression:esophagus (human) RGD PMID:31423201 RGD:150520019 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		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 chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554 		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 chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr17:50,633,397...50,653,882
Ensembl chr17:50,633,413...50,653,894 		JBrowse link
G CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11241319 NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076 		JBrowse link
G DAB2IP DAB2 interacting protein severity ISO protein:decreased expression:esophagus (human) RGD PMID:30464518 RGD:151665168 NCBI chr 9:60,725,887...60,918,242
Ensembl chr 9:60,726,809...60,918,139 		JBrowse link
G DCC DCC netrin 1 receptor ISO OMIM NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967 		JBrowse link
G DIDO1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr24:46,691,117...46,735,117
Ensembl chr24:46,692,605...46,724,505 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900 		JBrowse link
G DPP4 dipeptidyl peptidase 4 ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr36:7,398,713...7,472,554
Ensembl chr36:7,399,643...7,454,204 		JBrowse link
G EFNB2 ephrin B2 exacerbates
ameliorates
severity		 ISO mRNA,protein:increased expression:esophagus squamous epithelium (human)
human cells in mouse model
mRNA:increased expression:esophagus squamous epithelium (human)		 RGD PMID:17611172 PMID:29190834 PMID:31885720 RGD:153300947 RGD:153300948 RGD:153300949 NCBI chr22:55,567,992...55,609,210
Ensembl chr22:55,566,039...55,609,443 		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 chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		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 NCBI chr 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584 		JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G EPB41L3 erythrocyte membrane protein band 4.1 like 3 disease_progression ISO DNA:hypermethylation RGD PMID:25050929 RGD:151665741 NCBI chr 7:71,734,325...72,001,496
Ensembl chr 7:71,747,333...71,868,751 		JBrowse link
G EPHB4 EPH receptor B4 exacerbates ISO mRNA,protein:increased expression:esophagus squamous epithelium (human) RGD PMID:31885720 RGD:153300949 NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324 		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 chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602 		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 chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838 		JBrowse link
G FANCA FA complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823 		JBrowse link
G FAP fibroblast activation protein alpha ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr36:7,574,364...7,647,448
Ensembl chr36:7,575,161...7,647,226 		JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092 		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 chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192 		JBrowse link
G FAT2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:57,743,007...57,823,740
Ensembl chr 4:57,742,651...57,823,740 		JBrowse link
G FAT3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr21:7,711,304...8,355,609
Ensembl chr21:7,711,995...8,213,266 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195 		JBrowse link
G FES FES proto-oncogene, tyrosine kinase exacerbates ISO DNA:hypermethylation: (human) RGD PMID:24936140 RGD:153323298 NCBI chr 3:53,346,975...53,356,547
Ensembl chr 3:53,347,012...53,356,516 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 treatment ISO RGD PMID:25989802 RGD:150520041 NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035 		JBrowse link
G FKBP1A FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr24:19,618,581...19,643,685
Ensembl chr24:19,618,558...19,643,046 		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 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807 		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 chr 6:68,923,215...68,963,766 JBrowse link
G GDI2 GDP dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:30,150,769...30,168,957
Ensembl chr 2:30,150,769...30,169,110 		JBrowse link
G GLO1 glyoxalase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:7,584,141...7,609,615
Ensembl chr12:7,585,531...7,609,550 		JBrowse link
G GPX3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation RGD PMID:25050929 PMID:30018730 RGD:151665494 RGD:151665741 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		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 chr 9:22,743,370...22,751,936
Ensembl chr 9:22,743,402...22,750,896 		JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr28:16,569,421...16,579,239
Ensembl chr28:16,569,066...16,619,880 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G H2BC27 H2B clustered histone 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr14:596,292...599,815
Ensembl chr14:599,408...599,788 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692 		JBrowse link
G HMGB1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165 		JBrowse link
G HOXB7 homeobox B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr 9:24,870,037...24,874,517
Ensembl chr 9:24,870,612...24,873,453 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257 		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 chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 severity ISO human cells in mouse model RGD PMID:32367071 RGD:149735568 NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496 		JBrowse link
G JAK2 Janus kinase 2 severity ISO protein:increased phosphorylation:esophagus squamous epithelium (human) RGD PMID:32158193 RGD:127285669 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		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 chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442 		JBrowse link
G KAT2B lysine acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr23:23,166,722...23,242,447
Ensembl chr23:23,168,600...23,233,478 		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 chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801 		JBrowse link
G KDM5B lysine demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386 		JBrowse link
G KDM6A lysine demethylase 6A ameliorates ISO DNA:mutations:multiple (human)
protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:25151357 PMID:29351209 PMID:31804468 RGD:150429739 RGD:150429742 RGD:9588233 NCBI chr  X:38,745,854...38,964,029
Ensembl chr  X:38,745,854...38,959,842 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:25151357 RGD:9588233 NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:esophagus
DNA:mutations:multiple (human)		 CTD
RGD		 PMID:25151357 PMID:29532228 RGD:150521712 RGD:9588233 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490 		JBrowse link
G KRT13 keratin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:21,261,233...21,265,564
Ensembl chr 9:21,156,045...21,265,564 		JBrowse link
G KRT14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564 		JBrowse link
G KRT17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:21,155,007...21,161,407
Ensembl chr 9:21,156,045...21,265,564 		JBrowse link
G KRT19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:21,240,778...21,245,039 JBrowse link
G KRT7 keratin 7 disease_progression ISO RGD PMID:29788741 RGD:151665759 NCBI chr27:2,812,709...2,827,451 JBrowse link
G LOC100686073 metallothionein-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 2:59,603,021...59,604,173
Ensembl chr 2:59,603,014...59,604,132 		JBrowse link
G LOC476070 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr18:55,653,677...55,661,017 JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969 		JBrowse link
G LTA lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067 		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 chr25:36,764,235...36,814,204
Ensembl chr25:36,744,061...36,811,972 		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 2:43,918,210...43,996,817
Ensembl chr 2:43,917,604...43,995,209 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility ISO DNA:snp:cds:p.E346K (rs140693) (human)
DNA:snp:intron:IVS5-140A>G (rs3138355) (human)		 RGD PMID:15205355 PMID:25162968 RGD:9588976 RGD:9588980 NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881 		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 chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380 		JBrowse link
G MIR10A microRNA mir-10a ISO miRNA:increased expression:esophagus squamous epithelium (human) RGD PMID:32997362 RGD:153323343 NCBI chr 9:24,842,171...24,842,233
Ensembl chr 9:24,842,145...24,842,248 		JBrowse link
G MIR127 microRNA mir-127 ISO RNA:decreased expression:esophagus (human) RGD PMID:27645894 RGD:152995354 NCBI chr 8:69,104,938...69,104,997
Ensembl chr 8:69,104,906...69,105,016 		JBrowse link
G MIR193A microRNA mir-193a exacerbates ISO miRNA:decreased expression:esophagus (human) RGD PMID:27203740 RGD:153323341 NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542 		JBrowse link
G MIR217 microRNA mir-217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr10:56,754,566...56,754,647
Ensembl chr10:56,754,566...56,754,647 		JBrowse link
G MIR31 microRNA mir-31 ameliorates ISO RGD PMID:21658006 PMID:32123074 RGD:127285381 RGD:152998938 NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503 		JBrowse link
G MIR423A microRNA mir-423a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr 9:44,155,913...44,155,971 JBrowse link
G MIR432 microRNA mir-432 ISO mRNA:increased expression:esophagus (human) RGD PMID:28760781 RGD:153002560 NCBI chr 8:69,106,415...69,106,501
Ensembl chr 8:69,106,415...69,106,501 		JBrowse link
G MIR494 microRNA mir-494 ISO mRNA:decreased expression:esophagus RGD PMID:25480402 RGD:150530497 NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465 		JBrowse link
G MLH1 mutL homolog 1 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus RGD PMID:21674174 RGD:126790574 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO protein:increased expression: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased activity: esophagus RGD PMID:24789592 RGD:152600903 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		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 chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		JBrowse link
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857 		JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO mRNA, protein:decreased expression:esophagus (human) RGD PMID:33833989 RGD:153344568 NCBI chr 6:17,876,740...17,879,546 JBrowse link
G PBX3 PBX homeobox 3 ISO RNA:increased expression:esophagus squamous epithelium (human) RGD PMID:32449803 RGD:153345544 NCBI chr 9:57,198,531...57,429,820
Ensembl chr 9:57,199,812...57,429,811 		JBrowse link
G PFN1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:31,670,483...31,671,891
Ensembl chr 5:31,670,194...31,671,895 		JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 disease_progression ISO RGD PMID:19492245 RGD:6482249 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069 		JBrowse link
G PSME1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:4,131,197...4,134,001
Ensembl chr 8:4,131,345...4,134,006 		JBrowse link
G PSME2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:4,137,247...4,141,380
Ensembl chr 8:4,137,247...4,140,706 		JBrowse link
G PTCH1 patched 1 disease_progression ISO RGD PMID:16475698 RGD:150523841 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		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 chr24:29,992,957...30,764,469
Ensembl chr24:30,000,637...30,820,835 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 disease_progression
severity		 ISO human cells in mouse model
protein:increased expression:esophagus (human)		 RGD PMID:28132115 PMID:30119206 PMID:32642408 RGD:152995460 RGD:152995470 RGD:152995512 NCBI chr 4:69,903,393...70,013,168
Ensembl chr 4:69,936,379...70,010,566 		JBrowse link
G RNF6 ring finger protein 6 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar
OMIM		 PMID:12154016 NCBI chr25:13,199,201...13,240,347
Ensembl chr25:13,199,397...13,207,497 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO DNA:SNP: :rs2014300 (human) RGD PMID:30666517 RGD:126775149 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO mRNA:increased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785 		JBrowse link
G RUNX3 RUNX family transcription factor 3 disease_progression ISO mRNA:decreased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568
G SALL4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		JBrowse link
G SETD5 SET domain containing 5 disease_progression ISO RGD PMID:31981592 RGD:155804254 NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674 		JBrowse link
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537 		JBrowse link
G SLC16A10 solute carrier family 16 member 10 ISO protein:increased expression:esophagus RGD PMID:33609949 RGD:151361149 NCBI chr12:67,612,563...67,720,763
Ensembl chr12:67,705,037...67,719,985 		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 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141 		JBrowse link
G SLC39A6 solute carrier family 39 member 6 ISO CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr 7:54,059,193...54,080,582
Ensembl chr 7:54,059,193...54,080,582 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003 		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 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858 		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 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr34:14,853,000...14,855,153 JBrowse link
G SPEN spen family transcriptional repressor ISO associated with Neoplasm Metastasis; DNA:mutations RGD PMID:33363385 RGD:151347445 NCBI chr 2:81,683,824...81,775,904 JBrowse link
G STIM1 stromal interaction molecule 1 exacerbates ISO protein:increased expression:esophagus (human) RGD PMID:31843504 RGD:152995393 NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072 		JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 ISO DNA:SNP:exon:p.R213H, 638G>A (human) RGD PMID:12455060 RGD:1581448 NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489 		JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:16,390,259...16,395,471
Ensembl chr 5:16,390,573...16,397,207 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832 		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 chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 severity ISO mRNA:decreased expression:esophagus squamous epithelium (human)
DNA:mutations
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 chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:27050164 RGD:150429668 NCBI chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO OMIM NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636 		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 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001 		JBrowse link
G TNFAIP8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr11:8,624,106...8,685,389
Ensembl chr11:8,660,557...8,684,374 		JBrowse link
G TNXB tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
DNA:misssense mutation: :p.R72P (rs1042522) (human)		 CTD
RGD		 PMID:16543248 PMID:25151357 PMID:28789369 RGD:14995932 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		JBrowse link
G TPM2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923 		JBrowse link
G TXNDC17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:30,701,673...30,703,742
Ensembl chr 5:30,701,700...30,703,739 		JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35022897 NCBI chr30:16,341,970...16,408,246
Ensembl chr30:16,342,009...16,408,012 		JBrowse link
G VENTX VENT homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr28:40,836,688...40,840,145
Ensembl chr28:40,836,403...40,840,127 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 disease_progression ISO RGD PMID:24626331 RGD:21081532 NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333 		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 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406 		JBrowse link
G XPO1 exportin 1 exacerbates ISO protein:increased expression:esophagus (human)
mRNA, protein:increased expression:epithelium of esophagus (human)		 RGD PMID:24898882 PMID:25148895 RGD:151667431 RGD:151667436 NCBI chr10:61,541,647...61,588,397
Ensembl chr10:61,542,211...61,585,054 		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 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816 		JBrowse link
G ZCCHC12 zinc finger CCHC-type containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:91,004,777...91,008,019 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 chr 9:4,211,951...4,240,253
Ensembl chr 9:4,226,364...4,237,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    disease of anatomical entity 15367
      gastrointestinal system disease 6621
        esophageal disease 492
          Esophageal Neoplasms 287
            Leiomyoma of Vulva and Esophagus 0
            esophageal cancer + 242
            esophageal lipoma 0
            esophagus adenocarcinoma + 45
            esophagus leiomyoma 0
            esophagus squamous cell papilloma 0
Path 2
Term Annotations click to browse term
  disease 15721
    disease of anatomical entity 15367
      gastrointestinal system disease 6621
        Digestive System Neoplasms 3726
          Gastrointestinal Neoplasms 3612
            Esophageal Neoplasms 287
              Leiomyoma of Vulva and Esophagus 0
              esophageal cancer + 242
              esophageal lipoma 0
              esophagus adenocarcinoma + 45
              esophagus leiomyoma 0
              esophagus squamous cell papilloma 0
paths to the root