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 carcinoma
Accession: DOID:1107
browse the term
Definition: A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)
Synonyms: exact_synonym: cancer of esophagus; cancer of oesophagus; carcinoma of esophagus; carcinoma of oesophagus; esophageal carcinoma, somatic
xref: EFO:0002916 ; NCI:C3513 ; ORDO:70482
For additional species annotation, visit the
Alliance of Genome Resources .
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Akt1
thymoma viral proto-oncogene 1
severity
ISO
DNA:SNPs:introns: (rs3803304, rs1130214)
RGD
PMID:19164214
RGD:408345192
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Birc7
baculoviral IAP repeat-containing 7
disease_progression
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:180,570,402...180,575,803
Ensembl chr 2:180,570,816...180,575,803
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Brca2
breast cancer 2, early onset
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar
PMID:17972177 PMID:18431501 PMID:18627636 PMID:18779604 PMID:21120943 PMID:21218378 PMID:21523855 PMID:22126563 PMID:22293751 PMID:22486713 PMID:23555315 PMID:24055113 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26689913 PMID:28222693 PMID:28492532 PMID:30702160 PMID:31131967 PMID:32467295 PMID:33471991 PMID:35464868 More...
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:25741868 PMID:26619011 PMID:28492532
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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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 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:25157968 PMID:26619011 PMID:26822237 More...
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Dcc
DCC netrin 1 receptor
ISO
ClinVar Annotator: match by term: Esophageal carcinoma, somatic
ClinVar
PMID:8187090
NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140
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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 PMID:19147750 PMID:19536777 PMID:20522446 PMID:22753918 PMID:23102728 PMID:24033266 PMID:25157968 PMID:25521405 PMID:26051236 PMID:29141884 More...
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar
PMID:26619011
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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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 chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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Fbxw7
F-box and WD-40 domain protein 7
ISO
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:25157968 PMID:26619011
NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
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Grb7
growth factor receptor bound protein 7
exacerbates
ISO
mRNA:increased expression:esophagus mucosa (human)
RGD
PMID:8988034
RGD:151347660
NCBI chr11:98,337,660...98,346,199
Ensembl chr11:98,337,220...98,346,199
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Hras
Harvey rat sarcoma virus oncogene
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 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Htra1
HtrA serine peptidase 1
disease_progression
ISO
mRNA,protein:decreased expression:esophagus (human)
RGD
PMID:22935172
RGD:152985525
NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390
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Jak2
Janus kinase 2
treatment
ISO
associated with Immune Deficiency Disease, human cells in mouse model
RGD
PMID:25724470
RGD:127285656
NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:26619011 PMID:30891959 More...
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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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 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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Map2k7
mitogen-activated protein kinase kinase 7
exacerbates
ISO
mRNA:decreased expression:espohagus (human)
RGD
PMID:32831056
RGD:155630592
NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897 Ensembl chr 8:4,288,740...4,297,897
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Myc
myelocytomatosis oncogene
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar
PMID:25157968 PMID:26619011
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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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 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 PMID:37712948 More...
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Rhoa
ras homolog family member A
ISO
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:26619011
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
severity
ISO
RGD
PMID:15906366
RGD:151361282
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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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 PMID:9679244 PMID:9811934 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10797267 PMID:11274206 PMID:11583957 PMID:12116240 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15799969 PMID:16613914 PMID:17132729 PMID:17873119 PMID:17994767 PMID:18823382 PMID:20101697 PMID:20301642 PMID:22316667 PMID:22331366 PMID:25741868 PMID:26572829 PMID:26619011 PMID:26900293 PMID:27595937 PMID:28492532 PMID:31837202 PMID:32300199 PMID:32573726 PMID:32944796 PMID:33326750 More...
NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
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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 chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Trp53
transformation related protein 53
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 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7478555 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7750099 PMID:7761089 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8631304 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8843196 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9049184 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:9839505 PMID:9979965 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10629033 PMID:10713666 PMID:10732753 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16247456 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:17974978 PMID:17999388 PMID:18208484 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367287 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20586629 PMID:20589832 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22862161 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:22999923 PMID:23028800 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23939625 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24728327 PMID:24744791 PMID:24810334 PMID:24835218 PMID:24857548 PMID:24940547 PMID:25119136 PMID:25157968 PMID:25186627 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25381062 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25961455 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26554828 PMID:26556299 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26655088 PMID:26659639 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27050224 PMID:27077130 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27557517 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28154273 PMID:28160093 PMID:28166194 PMID:28271309 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28573494 PMID:28724667 PMID:28772286 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31050713 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32126783 PMID:32156018 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32371905 PMID:32401780 PMID:32457520 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32959997 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33635883 PMID:33674644 PMID:33758026 PMID:33818021 PMID:33840814 PMID:34240179 PMID:34266904 PMID:34308366 PMID:34529667 PMID:34670578 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36168441 PMID:36219266 PMID:36988593 PMID:38355628 More...
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Cyp26a1
cytochrome P450, family 26, subfamily a, polypeptide 1
ISO
RGD
PMID:18059332
RGD:13782259
NCBI chr19:37,686,186...37,689,984
Ensembl chr19:37,686,246...37,689,984
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Gpx3
glutathione peroxidase 3
ISO
DNA:hypermethylation DNA:hypermethylation:promoter
RGD
PMID:16229808 PMID:18664505
RGD:151665354 , RGD:151665749
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Gpx7
glutathione peroxidase 7
ISO
DNA:hypermethylation:promoter
RGD
PMID:18664505
RGD:151665749
NCBI chr 4:108,257,414...108,263,910
Ensembl chr 4:108,257,587...108,264,158
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Abl1
c-abl oncogene 1, non-receptor tyrosine kinase
onset
ISO
DNA:SNP:3'utr: (rs4740363) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239
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Arid1a
AT-rich interaction domain 1A
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23525077 PMID:31906887
RGD:127285649
NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
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Barx1
BarH-like homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121790
NCBI chr13:48,816,512...48,819,983
Ensembl chr13:48,816,474...48,819,983
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Bcl2
B cell leukemia/lymphoma 2
onset
ISO
DNA:SNPs:3'utr: (rs720321, rs17757541) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Becn1
beclin 1, autophagy related
ISO
RGD
PMID:22301112
RGD:11561943
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
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Birc3
baculoviral IAP repeat-containing 3
treatment
ISO
RGD
PMID:26291056
RGD:152999007
NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
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Casp8
caspase 8
onset
ISO
DNA:SNP:5'utr: (rs1035142) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
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Cdc5l
cell division cycle 5-like
disease_progression
ISO
protein:increased expression:esophageal mucosa (human)
RGD
PMID:15725809
RGD:10047052
NCBI chr17:45,702,809...45,744,633
Ensembl chr17:45,702,810...45,744,663
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Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Crtc1
CREB regulated transcription coactivator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121790
NCBI chr 8:70,835,002...70,892,720
Ensembl chr 8:70,835,005...70,892,229
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Ctsb
cathepsin B
ISO
RGD
PMID:9770500
RGD:734853
NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
onset
ISO
DNA:SNP:5'utr: (rs2445762) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
treatment
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:30187205
RGD:151665176
NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065
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Dock2
dedicator of cyto-kinesis 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr11:34,176,815...34,674,732
Ensembl chr11:34,176,815...34,674,719
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Elmo1
engulfment and cell motility 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr13:20,274,677...20,792,523
Ensembl chr13:20,274,766...20,792,523
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Emx2
empty spiracles homeobox 2
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:31432154
RGD:153323302
NCBI chr19:59,447,122...59,453,789
Ensembl chr19:59,446,804...59,453,789
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Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
susceptibility
ISO
DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human)
RGD
PMID:18478337
RGD:13207314
NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
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Fas
Fas cell surface death receptor
ISO
associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human)
RGD
PMID:10340890
RGD:8662425
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Foxa1
forkhead box A1
ISO
protein:increased expression:esophagus
RGD
PMID:12234996
RGD:151665758
NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702
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Foxp1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)
CTD RGD
PMID:24121790 PMID:26383589
RGD:11535321
NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682
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Ghrl
ghrelin
onset
ISO
DNA:SNP:5'utr: (rs696217) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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Gpx3
glutathione peroxidase 3
susceptibility
ISO
DNA:SNPs:intron: (rs4958872, rs3792797) (human)
RGD
PMID:22715394
RGD:152995500
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Grb7
growth factor receptor bound protein 7
exacerbates treatment
ISO
human cells in a mouse model
RGD
PMID:32737994 PMID:31809243
RGD:151347656 , RGD:151347659
NCBI chr11:98,337,660...98,346,199
Ensembl chr11:98,337,220...98,346,199
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Gstm1
glutathione S-transferase, mu 1
ISO
DNA:deletion:: (human)
RGD
PMID:17064856
RGD:12792242
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstt1
glutathione S-transferase, theta 1
ISO
DNA:deletion:: (human)
RGD
PMID:17064856
RGD:12792242
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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Kdr
kinase insert domain protein receptor
onset
ISO
DNA:SNP:5'utr: (rs11941492) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Mir21a
microRNA 21a
disease_progression
ISO
RGD
PMID:26481465
RGD:41404702
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Mmp12
matrix metallopeptidase 12
ISO
DNA:snp:promoter:g.82A>G rs2276109 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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Mmp14
matrix metallopeptidase 14 (membrane-inserted)
onset
ISO
DNA:SNP:5'utr: (rs2236302) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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Mmp1a
matrix metallopeptidase 1a (interstitial collagenase)
susceptibility
ISO
DNA:insertion:promoter:g.-1607insG rs1799750 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
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Mmp1b
matrix metallopeptidase 1b (interstitial collagenase)
susceptibility
ISO
DNA:insertion:promoter:g.-1607insG rs1799750 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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Mmp3
matrix metallopeptidase 3
ISO
DNA:insertion:promoter:g.-1613insA rs3025058 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:esophagus
RGD
PMID:25562781
RGD:13204790
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nell1
NEL-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17452981
NCBI chr 7:49,625,098...50,513,037
Ensembl chr 7:49,624,612...50,516,356
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Nos3
nitric oxide synthase 3, endothelial cell
onset
ISO
DNA:SNP:3'utr: (rs2070744) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
mRNA,protein:increased expression:Esophagus
RGD
PMID:22165968
RGD:5687745
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein: increased expression: esophagus
CTD RGD
PMID:12507933 PMID:12055587
RGD:13207437
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Slc22a18
solute carrier family 22 (organic cation transporter), member 18
disease_progression
ISO
DNA:hypermethylation: (human)
RGD
PMID:23243219
RGD:150557426
NCBI chr 7:143,027,502...143,053,071
Ensembl chr 7:143,027,473...143,053,071
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Smad4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077 PMID:24952744
NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
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Smo
smoothened, frizzled class receptor
treatment
ISO
RGD
PMID:23108119
RGD:150340553
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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Sod2
superoxide dismutase 2, mitochondrial
ISO
RGD
PMID:17785574
RGD:2317403
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Spart
spartin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 3:55,019,500...55,044,753
Ensembl chr 3:55,019,529...55,044,743
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tnfrsf10b
tumor necrosis factor receptor superfamily, member 10b
onset
ISO
DNA:SNP:3'utr: (rs11775256) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860
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Trp53
transformation related protein 53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
susceptibility disease_progression
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) DNA:amplication: :
RGD
PMID:25910066 PMID:24951052
RGD:11055189 , RGD:13432070
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Krt14
keratin 14
ISO
protein:increased expression:esophagus
RGD
PMID:16140947
RGD:1600174
NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
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Abcc2
ATP-binding cassette, sub-family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21206495
NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
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Adcyap1
adenylate cyclase activating polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:93,506,448...93,513,967
Ensembl chr17:93,506,445...93,513,965
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Ajuba
ajuba LIM protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr14:54,804,926...54,815,118
Ensembl chr14:54,804,929...54,815,015
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Akt1
thymoma viral proto-oncogene 1
disease_progression
ISO
protein:increased expression:esophagus (human)
RGD
PMID:32642408
RGD:152995512
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Aldh2
aldehyde dehydrogenase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16639733 PMID:22960999
NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887
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Anxa1
annexin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
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Atm
ataxia telangiectasia mutated
disease_progression
ISO
Smoke Inhalation Injury; mRNA:increased expression:esophagus (human)
RGD
PMID:17019709
RGD:150340713
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Atp1b2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr11:69,490,554...69,496,786
Ensembl chr11:69,490,562...69,496,768
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Axin1
axin 1
disease_progression
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:12771989
RGD:150530473
NCBI chr17:26,350,294...26,414,784
Ensembl chr17:26,357,662...26,414,785
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Azgp1
alpha-2-glycoprotein 1, zinc
disease_progression
ISO
RGD
PMID:28053542
RGD:153350138
NCBI chr 5:137,979,783...137,988,495
Ensembl chr 5:137,979,782...137,988,495
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Azin1
antizyme inhibitor 1
ISO
RGD
PMID:24302582
RGD:14700707
NCBI chr15:38,487,674...38,523,506
Ensembl chr15:38,487,671...38,519,510
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B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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Blvrb
biliverdin reductase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 7:27,147,403...27,165,406
Ensembl chr 7:27,147,403...27,165,569
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Bmi1
Bmi1 polycomb ring finger oncogene
ISO
RGD
PMID:21165554
RGD:126781701
NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
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Bmp6
bone morphogenetic protein 6
ISO
protein:increased expression:esophagus
RGD
PMID:22364398
RGD:7242413
NCBI chr13:38,529,098...38,684,283
Ensembl chr13:38,529,083...38,684,278
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Brca1
breast cancer 1, early onset
ISO
DNA:SNP: :rs799917 (human)
RGD
PMID:23749772
RGD:126925960
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
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Brca2
breast cancer 2, early onset
ISO
DNA:nonsense mutation: :p.K3326X (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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Bst2
bone marrow stromal cell antigen 2
disease_progression
ISO
RGD
PMID:26832883
RGD:14398496
NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100
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Bub1b
BUB1B, mitotic checkpoint serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072
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Calr
calreticulin
ameliorates
ISO
CTD Direct Evidence: marker/mechanism human cells in a mouse model
CTD RGD
PMID:21517111 PMID:19684620 PMID:23814025
RGD:150521703 , RGD:150521679
NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563
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Capza1
capping actin protein of muscle Z-line subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 3:104,730,097...104,771,821
Ensembl chr 3:104,730,095...104,771,821
G
Car1
carbonic anhydrase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 3:14,831,274...14,873,425
Ensembl chr 3:14,831,276...14,873,428
G
Car12
carbonic anhydrase 12
severity
ISO
RGD
PMID:26316888
RGD:155226859
NCBI chr 9:66,619,026...66,674,127
Ensembl chr 9:66,620,968...66,674,127
G
Car2
carbonic anhydrase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 3:14,951,329...14,965,830
Ensembl chr 3:14,951,333...14,965,830
G
Casp8
caspase 8
exacerbates
ISO
mRNA,protein:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
G
Cbx8
chromobox 8
severity
ISO
mRNA:increased expression:esophagus:
RGD
PMID:25197352
RGD:9587436
NCBI chr11:118,929,262...118,931,739
Ensembl chr11:118,927,131...118,931,795
G
Cchcr1
coiled-coil alpha-helical rod protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr17:35,827,914...35,841,912
Ensembl chr17:35,827,997...35,841,912
G
Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
G
Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15375580
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
G
Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
G
Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
DNA:SNPs: :rs615552, rs573687 (human)
RGD
PMID:23361049
RGD:7248756
NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276
G
Cfl1
cofilin 1, non-muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229
G
Chrna5
cholinergic receptor, nicotinic, alpha polypeptide 5
susceptibility
ISO
DNA:SNP: :rs667282(human) mRNA:increased expression:esophagus (human)
RGD
PMID:23844051 PMID:27610024
RGD:150524358 , RGD:151361143
NCBI chr 9:54,888,112...54,918,704
Ensembl chr 9:54,888,164...54,915,063
G
Chrna7
cholinergic receptor, nicotinic, alpha polypeptide 7
exacerbates disease_progression
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024 PMID:33603170 PMID:33603170
RGD:151361143 , RGD:151667905 , RGD:151667905
NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317
G
Chrnb4
cholinergic receptor, nicotinic, beta polypeptide 4
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024
RGD:151361143
NCBI chr 9:54,935,438...54,956,236
Ensembl chr 9:54,935,438...54,956,063
G
Clic1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:35,269,219...35,277,695
Ensembl chr17:35,268,942...35,277,725
G
Clptm1l
CLPTM1-like
susceptibility no_association
ISO
DNA:SNP: :rs451360(human) DNA:SNP: :rs401681(human) mRNA:increased expression:esophagus
RGD
PMID:26716642 PMID:24386361 PMID:25480402 PMID:25007268
RGD:11572962 , RGD:150537098 , RGD:150530497 , RGD:150530488
NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724
G
Col14a1
collagen, type XIV, alpha 1
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr15:55,171,040...55,384,199
Ensembl chr15:55,171,146...55,384,199
G
Crabp1
cellular retinoic acid binding protein I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17438526
NCBI chr 9:54,672,032...54,680,394
Ensembl chr 9:54,672,032...54,680,394
G
Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
G
Csf1r
colony stimulating factor 1 receptor
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:32038997
RGD:150524298
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
G
Cstb
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
ClinVar
PMID:25157968 PMID:25741868 PMID:26619011
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Cxcl15
C-X-C motif chemokine ligand 15
severity
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:31423201
RGD:150520019
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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 chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
RGD
PMID:11860825
RGD:14700943
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
G
Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
protein:increased expression:esophagus (rat)
RGD
PMID:18618592
RGD:7829715
NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
G
Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
susceptibility
ISO
DNA:SNP:CDS: (rs2296241) (human)
RGD
PMID:28362172
RGD:151665500
NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065
G
Cyp26b1
cytochrome P450, family 26, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr 6:84,548,396...84,570,890
Ensembl chr 6:84,548,396...84,570,890
G
Cyp2a5
cytochrome P450, family 2, subfamily a, polypeptide 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11241319
NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973
G
Dab2ip
disabled 2 interacting protein
severity
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:30464518
RGD:151665168
NCBI chr 2:35,448,285...35,621,006
Ensembl chr 2:35,448,278...35,621,006
G
Dcc
DCC netrin 1 receptor
ISO
DNA:deletions:multiple (human)
OMIM RGD
PMID:8187090
RGD:734879
NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140
G
Dido1
death inducer-obliterator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr 2:180,299,757...180,351,886
Ensembl chr 2:180,299,757...180,351,792
G
Dnmt3b
DNA methyltransferase 3B
disease_progression
ISO
protein:increased expression:nucleus:
RGD
PMID:22213175
RGD:9589085
NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650
G
Dpp4
dipeptidylpeptidase 4
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 2:62,160,417...62,242,635
Ensembl chr 2:62,160,417...62,242,575
G
Efnb2
ephrin B2
severity exacerbates ameliorates
ISO
mRNA:increased expression:esophagus squamous epithelium (human) mRNA,protein:increased expression:esophagus squamous epithelium (human) human cells in mouse model
RGD
PMID:17611172 PMID:31885720 PMID:29190834
RGD:153300947 , RGD:153300949 , RGD:153300948
NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242
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Egfr
epidermal growth factor receptor
severity
ISO
protein:increased expression:esophagus (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
CTD ClinVar RGD
PMID:21947696 PMID:23485129 PMID:25157968 PMID:10385363
RGD:5131486
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
G
Ehmt1
euchromatic histone methyltransferase 1
disease_progression
ISO
protein:increased expression:esophagus: protein:increased expression:esophagus mucosa:
RGD
PMID:24649311 PMID:24805087
RGD:9589143 , RGD:9590071
NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626
G
Ehmt2
euchromatic histone lysine N-methyltransferase 2
disease_progression
ISO
protein:increased expression:esophagus mucosa:
RGD
PMID:24805087
RGD:9590071
NCBI chr17:35,117,427...35,133,049
Ensembl chr17:35,117,445...35,133,028
G
Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17965222 PMID:25151357
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
G
Epb41l3
erythrocyte membrane protein band 4.1 like 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr17:69,382,642...69,596,986
Ensembl chr17:69,382,678...69,596,984
G
Ephb4
Eph receptor B4
exacerbates
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
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:24916311 PMID:18000820
RGD:126781764 , RGD:126781765
NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218
G
Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
treatment
ISO
RGD
PMID:23263828
RGD:11252162
NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
RGD
PMID:25613619 PMID:21165554
RGD:126781697 , RGD:126781701
NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275
G
Fanca
Fanconi anemia, complementation group A
ISO
DNA:missense mutation: :p.S858R (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
G
Fap
fibroblast activation protein
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 2:62,331,280...62,404,365
Ensembl chr 2:62,331,287...62,404,419
G
Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373
G
Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:esophagus squamous epithelium (human)
CTD RGD
PMID:25151357 PMID:29365412 PMID:24590895
RGD:151347646 , RGD:151347630
NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
G
Fat2
FAT atypical cadherin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr11:55,141,435...55,228,331
Ensembl chr11:55,141,435...55,227,390
G
Fat3
FAT atypical cadherin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 9:15,821,485...16,413,981
Ensembl chr 9:15,821,485...16,412,581
G
Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134
G
Fbxw7
F-box and WD-40 domain protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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Fes
feline sarcoma oncogene
exacerbates
ISO
DNA:hypermethylation: (human)
RGD
PMID:24936140
RGD:153323298
NCBI chr 7:80,027,506...80,037,702
Ensembl chr 7:80,027,504...80,037,694
G
Fgfr4
fibroblast growth factor receptor 4
treatment
ISO
RGD
PMID:25989802
RGD:150520041
NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572
G
Fkbp1a
FK506 binding protein 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:151,384,403...151,403,611
Ensembl chr 2:151,384,403...151,403,612
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 chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702
G
Fubp1
far upstream element (FUSE) 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 3:151,916,059...151,942,467
Ensembl chr 3:151,916,059...151,942,463
G
Gdi2
GDP dissociation inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr13:3,588,075...3,616,261
Ensembl chr13:3,588,063...3,617,871
G
Glo1
glyoxalase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:30,811,835...30,831,633
Ensembl chr17:30,803,910...30,845,845
G
Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:30018730 PMID:25050929
RGD:151665494 , RGD:151665741
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
G
Grb7
growth factor receptor bound protein 7
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:10797316
RGD:151347654
NCBI chr11:98,337,660...98,346,199
Ensembl chr11:98,337,220...98,346,199
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Gstm1
glutathione S-transferase, mu 1
no_association
ISO
RGD
PMID:11860825 PMID:17916905 PMID:25432134
RGD:14700943 , RGD:14700982 , RGD:14700948
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
Gsto1
glutathione S-transferase omega 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr19:47,843,412...47,853,229
Ensembl chr19:47,843,409...47,853,229
G
Gstp1
glutathione S-transferase, pi 1
ISO
DNA:polymorphism: :p.I105V (human)
RGD
PMID:17916905
RGD:14700982
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
G
Gstt1
glutathione S-transferase, theta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17173682 PMID:25432134 PMID:17916905
RGD:14700948 , RGD:14700982
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
G
H19
H19, imprinted maternally expressed transcript
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32739445
NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,133,957
G
Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17201171
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
G
Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299
G
Hmgn5
high-mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28914995
NCBI chr X:108,048,143...108,056,986
Ensembl chr X:108,048,140...108,057,010
G
Hoxb7
homeobox B7
severity
ISO
protein:increased expression:esophageal mucosa (human)
RGD
PMID:26076456
RGD:10402177
NCBI chr11:96,176,431...96,180,989
Ensembl chr11:96,177,449...96,180,988
G
Hspa5
heat shock protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
G
Htra1
HtrA serine peptidase 1
exacerbates ameliorates
ISO
mRNA,protein:decreased expression:epithelium of esophagus (human) human gene and cells in mouse model
RGD
PMID:23079781 PMID:23079781
RGD:152975633 , RGD:152975633
NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390
G
Idh2
isocitrate dehydrogenase 2 (NADP+), mitochondrial
severity
ISO
human cells in mouse model
RGD
PMID:32367071
RGD:149735568
NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140
G
Jak2
Janus kinase 2
severity
ISO
protein:increased phosphorylation:esophagus squamous epithelium (human)
RGD
PMID:32158193
RGD:127285669
NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
G
Junb
jun B proto-oncogene
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:30227324 PMID:19758438
RGD:151347669 , RGD:151347672
NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347
G
Kat2b
K(lysine) acetyltransferase 2B
ISO
mRNA:decreased expression:esophagus (human)
RGD
PMID:19525977
RGD:9590307
NCBI chr17:53,873,802...53,979,749
Ensembl chr17:53,873,889...53,979,748
G
Kdm4c
lysine (K)-specific demethylase 4C
severity susceptibility
ISO
protein:increased expression:esophageal epithelium, nucleus (human) DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
RGD
PMID:24224128 PMID:15805246
RGD:9587746 , RGD:9587752
NCBI chr 4:74,160,734...74,324,101
Ensembl chr 4:74,160,734...74,324,097
G
Kdm5b
lysine demethylase 5B
severity
ISO
protein:increased expression:esophageal mucosa, cytoplasm (human)
RGD
PMID:22534467
RGD:9587776
NCBI chr 1:134,487,916...134,560,621
Ensembl chr 1:134,487,909...134,563,023
G
Kdm6a
lysine (K)-specific demethylase 6A
ameliorates
ISO
DNA:mutations:multiple (human) mRNA:increased expression:esophagus (human) protein:increased expression:esophagus (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25151357 PMID:25151357 PMID:31804468 PMID:29351209
RGD:9588233 , RGD:150429742 , RGD:150429739
NCBI chr X:18,027,101...18,147,061
Ensembl chr X:18,028,814...18,146,175
G
Kmt2c
lysine (K)-specific methyltransferase 2C
ISO
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25151357 PMID:25151357
RGD:9588233
NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781
G
Kmt2d
lysine (K)-specific methyltransferase 2D
ISO
DNA:mutations:multiple (human) mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25151357 PMID:25151357 PMID:29532228
RGD:9588233 , RGD:150521712
NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
G
Krt13
keratin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr11:100,008,153...100,012,392
Ensembl chr11:100,008,153...100,012,392
G
Krt14
keratin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
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Krt16
keratin 16
ISO
RGD
PMID:8950218
RGD:633113
NCBI chr11:100,136,917...100,139,728
Ensembl chr11:100,136,917...100,139,728
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Krt17
keratin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr11:100,147,041...100,151,855
Ensembl chr11:100,147,043...100,151,855
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Krt19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr11:100,031,636...100,036,752
Ensembl chr11:100,031,636...100,039,491
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Krt7
keratin 7
disease_progression
ISO
RGD
PMID:29788741
RGD:151665759
NCBI chr15:101,310,284...101,325,687
Ensembl chr15:101,308,924...101,328,194
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Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24716982
NCBI chr14:69,846,085...69,933,283
Ensembl chr14:69,846,517...69,933,283
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Lta
lymphotoxin A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Lzts1
leucine zipper, putative tumor suppressor 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition
OMIM ClinVar
PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532
NCBI chr 8:69,585,311...69,636,901
Ensembl chr 8:69,585,321...69,636,877
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Mad2l1
MAD2 mitotic arrest deficient-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr 6:66,512,205...66,518,091
Ensembl chr 6:66,512,374...66,524,204
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Malat1
metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25538231
NCBI chr19:5,845,718...5,852,700
Ensembl chr19:5,845,717...5,853,602
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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 chr13:111,882,962...111,954,803
Ensembl chr13:111,882,962...111,945,527
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Mbd4
methyl-CpG binding domain protein 4
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 chr 6:115,817,658...115,830,361
Ensembl chr 6:115,817,658...115,830,332
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Mgmt
O-6-methylguanine-DNA methyltransferase
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD RGD
PMID:25520135 PMID:21674174
RGD:126790574
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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Mir10a
microRNA 10a
ISO
miRNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32997362
RGD:153323343
NCBI chr11:96,207,991...96,208,100
Ensembl chr11:96,207,991...96,208,100
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Mir127
microRNA 127
ISO
RNA:decreased expression:esophagus (human)
RGD
PMID:27645894
RGD:152995354
NCBI chr12:109,559,280...109,559,349
Ensembl chr12:109,559,280...109,559,349
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Mir193a
microRNA 193a
exacerbates
ISO
miRNA:decreased expression:esophagus (human)
RGD
PMID:27203740
RGD:153323341
NCBI chr11:79,602,795...79,602,860
Ensembl chr11:79,602,795...79,602,860
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Mir217
microRNA 217
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25538231
NCBI chr11:28,713,728...28,713,835
Ensembl chr11:28,713,728...28,713,835
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Mir31
microRNA 31
ameliorates
ISO
RGD
PMID:32123074 PMID:21658006
RGD:127285381 , RGD:152998938
NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899
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Mir423
microRNA 423
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24205249
NCBI chr11:76,968,890...76,968,998
Ensembl chr11:76,968,890...76,968,998
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Mir432
microRNA 432
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:28760781
RGD:153002560
NCBI chr12:109,561,390...109,561,464
Ensembl chr12:109,561,390...109,561,464
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Mir494
microRNA 494
ISO
mRNA:decreased expression:esophagus
RGD
PMID:25480402
RGD:150530497
NCBI chr12:109,681,752...109,681,836
Ensembl chr12:109,681,752...109,681,836
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Mlh1
mutL homolog 1
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
RGD
PMID:21674174
RGD:126790574
NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859
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Mmp14
matrix metallopeptidase 14 (membrane-inserted)
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Msh2
mutS homolog 2
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, esophagus DNA, protein:hypermethylation, decreased expression:esophagus
RGD
PMID:22265839 PMID:21674174 PMID:24366688
RGD:126790560 , RGD:126790574 , RGD:126790573
NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141
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Msx3
msh homeobox 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr 7:139,626,070...139,629,001
Ensembl chr 7:139,626,070...139,629,002
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Mt1
metallothionein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Notch1
notch 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
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Notch2
notch 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
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Notch3
notch 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
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Ogg1
8-oxoguanine DNA-glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38467300
NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029
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Pagr1a
PAXIP1 associated glutamate rich protein 1A
ISO
mRNA, protein:decreased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
NCBI chr 7:126,614,223...126,616,524
Ensembl chr 7:126,614,205...126,616,524 Ensembl chr 7:126,614,205...126,616,524
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Pbx3
pre B cell leukemia homeobox 3
ISO
RNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32449803
RGD:153345544
NCBI chr 2:34,061,469...34,264,168
Ensembl chr 2:34,061,469...34,263,154
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Pfn1
profilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr11:70,542,670...70,547,625
Ensembl chr11:70,542,676...70,545,470
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Plce1
phospholipase C, epsilon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729852 PMID:20729853
NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474
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Prdx1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 4:116,542,796...116,557,196
Ensembl chr 4:116,542,741...116,558,019
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Psmb9
proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2)
disease_progression
ISO
RGD
PMID:19492245
RGD:6482249
NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738
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Psme1
proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr14:55,815,951...55,818,984
Ensembl chr14:55,815,580...55,818,986
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Psme2
proteasome (prosome, macropain) activator subunit 2 (PA28 beta)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr14:55,824,897...55,828,558
Ensembl chr14:55,824,898...55,828,570
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Ptch1
patched 1
disease_progression
ISO
RGD
PMID:16475698
RGD:150523841
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15756444 PMID:16543248 PMID:18197933
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Ptprt
protein tyrosine phosphatase receptor type T
susceptibility
ISO
DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human)
RGD
PMID:25967969
RGD:150520191
NCBI chr 2:161,363,908...162,503,106
Ensembl chr 2:161,363,910...162,503,067
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Rictor
RPTOR independent companion of MTOR, complex 2
disease_progression severity
ISO
human cells in mouse model protein:increased expression:esophagus (human)
RGD
PMID:30119206 PMID:32642408 PMID:28132115
RGD:152995460 , RGD:152995512 , RGD:152995470
NCBI chr15:6,737,827...6,829,882
Ensembl chr15:6,737,860...6,829,882
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Rnf6
ring finger protein (C3H2C3 type) 6
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
ClinVar OMIM
PMID:12154016
NCBI chr 5:146,146,003...146,158,267
Ensembl chr 5:146,146,002...146,158,365
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Runx1
runt related transcription factor 1
ISO
DNA:SNP: :rs2014300 (human)
RGD
PMID:30666517
RGD:126775149
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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Runx2
runt related transcription factor 2
ISO
mRNA:increased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684
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Runx3
runt related transcription factor 3
disease_progression
ISO
mRNA:decreased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
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Sall4
spalt like transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863
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Serpinb3d
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:107,005,893...107,011,210
Ensembl chr 1:107,005,897...107,011,236
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Setd5
SET domain containing 5
disease_progression
ISO
RGD
PMID:31981592
RGD:155804254
NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396
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Sfn
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 4:133,327,867...133,329,163
Ensembl chr 4:133,327,867...133,329,479
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Slc16a10
solute carrier family 16 (monocarboxylic acid transporters), member 10
ISO
protein:increased expression:esophagus
RGD
PMID:33609949
RGD:151361149
NCBI chr10:39,909,528...40,018,262
Ensembl chr10:39,909,528...40,018,254
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Slc1a5
solute carrier family 1 (neutral amino acid transporter), member 5
disease_progression
ISO
protein:increased expression:esophagus
RGD
PMID:33609949 PMID:26936531
RGD:151361149 , RGD:11532833
NCBI chr 7:16,515,259...16,532,199
Ensembl chr 7:16,515,265...16,532,199
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Slc39a6
solute carrier family 39 (metal ion transporter), member 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23644492
NCBI chr18:24,712,938...24,736,874
Ensembl chr18:24,712,938...24,736,874
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Slc52a3
solute carrier protein family 52, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729853
NCBI chr 2:151,838,431...151,851,178
Ensembl chr 2:151,838,431...151,851,178
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Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
disease_progression
ISO
protein:increased expression:esophagus
RGD
PMID:31726270 PMID:26936531 PMID:33609949
RGD:151361144 , RGD:11532833 , RGD:151361149
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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Socs1
suppressor of cytokine signaling 1
severity treatment
ISO IDA
mRNA:decreased expression:esophagus
RGD
PMID:21385099 PMID:31728180 PMID:28233302
RGD:150573691 , RGD:150573815 , RGD:150573812
NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
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Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18167182 PMID:21517111
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Sox2
SRY (sex determining region Y)-box 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19801978
NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610
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Spen
spen family transcription repressor
ISO
associated with Neoplasm Metastasis; DNA:mutations
RGD
PMID:33363385
RGD:151347445
NCBI chr 4:141,195,199...141,265,955
Ensembl chr 4:141,195,201...141,265,908
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Stim1
stromal interaction molecule 1
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:31843504
RGD:152995393
NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
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Sult1a1
sulfotransferase family 1A, phenol-preferring, member 1
ISO
DNA:SNP:exon:p.R213H, 638G>A (human)
RGD
PMID:12455060
RGD:1581448
NCBI chr 7:126,272,042...126,289,615
Ensembl chr 7:126,272,037...126,275,604
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Tagln
transgelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:45,840,926...45,847,356
Ensembl chr 9:45,840,917...45,847,356
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Tap1
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
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Tap2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
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Tcn2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159
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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:26716642 PMID:15112252 PMID:25007268
RGD:11572962 , RGD:152977757 , RGD:150530488
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Tet2
tet methylcytosine dioxygenase 2
severity
ISO
mRNA:decreased expression:esophagus squamous epithelium (human) associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) DNA:mutations
RGD
PMID:26093090 PMID:27050164 PMID:26873401
RGD:11528815 , RGD:150429668 , RGD:150429656
NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900
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Tet3
tet methylcytosine dioxygenase 3
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:27050164
RGD:150429668
NCBI chr 6:83,339,355...83,434,190
Ensembl chr 6:83,339,355...83,436,066
G
Tgfbr2
transforming growth factor, beta receptor II
ISO
OMIM
NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428
G
Tnfaip3
tumor necrosis factor, alpha-induced protein 3
severity
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:28197630
RGD:151347617
NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405
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Tnfaip8
tumor necrosis factor, alpha-induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21969086
NCBI chr18:50,112,494...50,226,296
Ensembl chr18:50,112,494...50,240,240
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Tnxb
tenascin XB
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr17:34,879,427...34,938,789
Ensembl chr17:34,879,431...34,938,789
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Tpi1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259
G
Tpm1
tropomyosin 1, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:66,929,872...66,956,954
Ensembl chr 9:66,929,872...66,956,688
G
Tpm2
tropomyosin 2, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
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Trp53
transformation related protein 53
ISO EXP
DNA:misssense mutation: :p.R72P (rs1042522) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16543248 PMID:25151357 PMID:28789369
RGD:14995932
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
G
Txndc17
thioredoxin domain containing 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr11:72,098,380...72,101,313
Ensembl chr11:72,098,373...72,100,841
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Tymp
thymidine phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11641616
NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242
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Usp8
ubiquitin specific peptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35022897
NCBI chr 2:126,549,280...126,601,234
Ensembl chr 2:126,549,248...126,601,217
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Wrap53
WD repeat containing, antisense to Trp53
disease_progression
ISO
RGD
PMID:24626331
RGD:21081532
NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081
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Wwox
WW domain-containing oxidoreductase
ISO
esophageal squamous cell carcinoma, OMIM:133239 ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:11956080 PMID:25526675 PMID:28492532 PMID:11956080
RGD:1599874
NCBI chr 8:115,166,377...116,079,451
Ensembl chr 8:115,166,395...116,079,447
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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 chr11:23,205,768...23,248,250
Ensembl chr11:23,206,055...23,248,249
G
Xrcc1
X-ray repair complementing defective repair in Chinese hamster cells 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:16639733 PMID:11400117 PMID:25710005 PMID:27123143 PMID:28356949
RGD:151347444 , RGD:150530501 , RGD:150530634 , RGD:150530505
NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
G
Zcchc12
zinc finger, CCHC domain containing 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr X:35,459,553...35,462,817
Ensembl chr X:35,459,557...35,462,811
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all