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
Accession: DOID:9000117
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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ABCB1
ATP binding cassette subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21332314
NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
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ACTB
actin beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
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ADH1B
alcohol dehydrogenase 1B (class I), beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18500343
NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079
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ADH7
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18500343
NCBI chr 4:91,833,111...91,856,325
Ensembl chr 4:102,494,784...102,518,215
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AKAP13
A-kinase anchoring protein 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chr15:64,076,422...64,438,109
Ensembl chr15:83,387,667...83,651,362
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ALDH2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8850269
NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
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ALOX15
arachidonate 15-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406566
NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
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AQP3
aquaporin 3 (Gill blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438
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BAX
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17634542
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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BBC3
BCL2 binding component 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16481741
NCBI chr19:44,203,517...44,215,860
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BCL2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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BCL2A1
BCL2 related protein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17634542
NCBI chr15:58,925,853...58,935,122
Ensembl chr15:77,882,940...77,893,628
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BSG
basigin (Ok blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36574092
Ensembl chr19:539,815...551,456
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CASP8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17450141 PMID:21472143
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
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CCND1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12235107
NCBI chr11:64,737,006...64,750,353
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CCNH
cyclin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
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CDH13
cadherin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18729198
NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996
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CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:11903577
RGD:8662379
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism Protein:decreased expression:esophagus
CTD RGD
PMID:10969811 PMID:18410530
RGD:1600828
NCBI chr 9:21,803,862...21,831,322
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CRYAB
crystallin alpha B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7692001
NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
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CYP26A1
cytochrome P450 family 26 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18059332
NCBI chr10:89,817,623...89,822,024
Ensembl chr10:93,330,460...93,334,105
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DCC
DCC netrin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
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EGFR
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21298351 PMID:21468131 PMID:22042947
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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ENO1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr 1:7,619,490...7,637,558
Ensembl chr 1:8,855,074...8,873,215
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22042947
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
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FAS
Fas cell surface death receptor
ISO
protein:decreased expression:esophageal mucosa:
RGD
PMID:9605741
RGD:11049151
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FASLG
Fas ligand
ISO
protein:increased expression:esophageal mucosa:
RGD
PMID:9605741
RGD:11049151
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
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GHRL
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
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GNG7
G protein subunit gamma 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18219292
NCBI chr19:1,525,479...1,723,139
Ensembl chr19:2,489,311...2,498,934
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GRIK2
glutamate ionotropic receptor kainate type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 6:98,720,430...99,903,582
Ensembl chr 6:103,334,707...103,783,092
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KDR
kinase insert domain receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143 PMID:35917945
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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LGALS3
galectin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17634542
NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
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LOC100974886
uncharacterized LOC100974886
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21509778
NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555
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LZTS1
leucine zipper tumor suppressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:19,471,361...19,529,437
Ensembl chr 8:16,418,496...16,476,111
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MACIR
macrophage immunometabolism regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 5:98,612,892...98,632,854
Ensembl chr 5:104,330,232...104,330,852
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MAP3K3
mitogen-activated protein kinase kinase kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chr17:57,702,242...57,776,601
Ensembl chr17:62,858,635...62,922,874
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MARCHF8
membrane associated ring-CH-type finger 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chr10:42,539,079...42,677,277
Ensembl chr10:45,718,172...45,796,771
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22042947
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
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MLH3
mutL homolog 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16981255
NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
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MMP14
matrix metallopeptidase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
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MYC
MYC proto-oncogene, bHLH transcription factor
treatment
ISO
RGD
PMID:22844359
RGD:7207890
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15264214
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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NOS3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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NR1I2
nuclear receptor subfamily 1 group I member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21977915
NCBI chr 3:116,901,579...116,940,366
Ensembl chr 3:123,815,135...123,853,129
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PHB1
prohibitin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790
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PRDX1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018
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PRDX2
peroxiredoxin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189197
NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283
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PTGS2
prostaglandin-endoperoxide synthase 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs: :-1195A > G, -765G > C (human) mRNA,protein:increased expression:Esophagus
CTD RGD
PMID:11059772 PMID:16083713 PMID:16322294 PMID:17707579 PMID:22165968
RGD:5135528 RGD:5687745
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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RNF6
ring finger protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:7,505,669...7,515,542
Ensembl chr13:25,854,765...25,864,629
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RPRM
reprimo, TP53 dependent G2 arrest mediator homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121882
NCBI chr2B:40,772,338...40,773,805
Ensembl chr2B:158,009,772...158,010,101
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RUNX3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18058463
NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
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SFN
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
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SLC30A7
solute carrier family 30 member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chr 1:103,552,661...103,636,019
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SMYD2
SET and MYND domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25825497
NCBI chr 1:189,849,167...189,905,193
Ensembl chr 1:194,729,116...194,761,045
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SNAI2
snail family transcriptional repressor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chr 8:45,341,857...45,345,544
Ensembl chr 8:42,723,971...42,730,904
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11053990 PMID:15986332
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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SST
somatostatin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17999418
NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337
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TGFBR2
transforming growth factor beta receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789724
NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
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TGM2
transglutaminase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chr20:34,450,845...34,488,106
Ensembl chr20:35,561,819...35,599,042
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TNFRSF10A
TNF receptor superfamily member 10a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
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TP53
tumor protein p53
ISO
protein:increased expression:esophageal mucosa: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12706858 PMID:16778087 PMID:17634542 PMID:26192916 PMID:26439224
RGD:11075085 RGD:8547873
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TPM1
tropomyosin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530
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TPM4
tropomyosin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr19:15,557,683...15,593,143
Ensembl chr19:16,540,805...16,575,312
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TRMT11
tRNA methyltransferase 11 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 6:123,770,783...123,825,179
Ensembl chr 6:127,888,697...127,941,505
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TUFM
Tu translation elongation factor, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
Ensembl chr16:29,227,852...29,233,513
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UCHL1
ubiquitin C-terminal hydrolase L1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15930319
NCBI chr 4:35,580,755...35,592,314
Ensembl chr 4:41,428,759...41,440,129
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WIF1
WNT inhibitory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17384664
NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807
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WWOX
WW domain containing oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
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XIAP
X-linked inhibitor of apoptosis
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17611394
NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606
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XRCC3
X-ray repair cross complementing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21347786
NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
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CYP26A1
cytochrome P450 family 26 subfamily A member 1
ISO
RGD
PMID:18059332
RGD:13782259
NCBI chr10:89,817,623...89,822,024
Ensembl chr10:93,330,460...93,334,105
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GPX3
glutathione peroxidase 3
ISO
DNA:hypermethylation DNA:hypermethylation:promoter
RGD
PMID:16229808 PMID:18664505
RGD:151665354 RGD:151665749
NCBI chr 5:146,447,939...146,456,476
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GPX7
glutathione peroxidase 7
ISO
DNA:hypermethylation:promoter
RGD
PMID:18664505
RGD:151665749
NCBI chr 1:51,827,000...51,870,924
Ensembl chr 1:53,471,624...53,477,448
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AKT1
AKT serine/threonine kinase 1
ISO
protein:increased expression:esophagus (human)
RGD
PMID:27188433
RGD:152995510
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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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 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:33355142 More...
NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
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BHLHE41
basic helix-loop-helix family member e41
ISO
protein:increased expression:esophagus(human)
RGD
PMID:29890466
RGD:151665308
NCBI chr12:60,194,758...60,199,344
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BRCA2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:25741868 PMID:28492532 PMID:31911673
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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CTNNA1
catenin alpha 1
disease_progression
ISO
RGD
PMID:9863006
RGD:2289811
NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
RGD
PMID:11833070 PMID:26782562
RGD:11554919 RGD:14700950
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
ameliorates
ISO
RNA:decreased expression:esophagus (human)
RGD
PMID:14760115
RGD:152025255
NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716
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DCC
DCC netrin 1 receptor
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
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DLEC1
DLEC1 cilia and flagella associated protein
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:25741868
NCBI chr 3:37,937,566...38,020,662
Ensembl chr 3:38,221,275...38,303,194
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FGF2
fibroblast growth factor 2
ISO
RGD
PMID:29660336
RGD:21409755
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
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GPX3
glutathione peroxidase 3
treatment
ISO
DNA:hypermethylation
RGD
PMID:33292587
RGD:151665781
NCBI chr 5:146,447,939...146,456,476
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GSTM1
glutathione S-transferase mu 1
ISO
RGD
PMID:11833070 PMID:12406553 PMID:23749488 PMID:26782562
RGD:11554919 RGD:14700950 RGD:14700964 RGD:14700969
Ensembl chr 1:127,979,238...128,010,411
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HMOX1
heme oxygenase 1
ISO
protein:increased expression:esophagus
RGD
PMID:20498946
RGD:4145286
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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IL10
interleukin 10
treatment
ISO
RGD
PMID:26603620
RGD:152998997
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL1B
interleukin 1 beta
treatment
ISO
RGD
PMID:26603620
RGD:152998997
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL1R2
interleukin 1 receptor type 2
susceptibility
ISO
DNA:SNP:cds:rs11674595|rs2072472 (human)
RGD
PMID:31744444
RGD:152998961
Ensembl chr2A:103,042,328...103,078,190
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IL5
interleukin 5
treatment
ISO
RGD
PMID:20232121
RGD:5134997
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
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LOC100976904
growth-regulated alpha protein
ISO
protein:increased expression:serum
RGD
PMID:20232121
RGD:5134997
NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474
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LZTS1
leucine zipper tumor suppressor 1
ISO
esophageal squamous cell carcinoma, OMIM:133239
RGD
PMID:10097140
RGD:1600104
NCBI chr 8:19,471,361...19,529,437
Ensembl chr 8:16,418,496...16,476,111
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MAF
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:60,188,494...60,194,871
G
MXI1
MAX interactor 1, dimerization protein
ISO
RGD
PMID:10849326
RGD:1298988
NCBI chr10:106,799,511...106,878,697
G
MYD88
MYD88 innate immune signal transduction adaptor
ISO
mRNA:splice variants:esophagus (human)
RGD
PMID:24527027
RGD:150519911
NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
protein:increased expression:esophagus (human)
RGD
PMID:27188433
RGD:152995510
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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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 chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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SOCS1
suppressor of cytokine signaling 1
ISO
mRNA,protein:decreased expression:esophagus:
RGD
PMID:33862112
RGD:151232285
NCBI chr16:10,196,432...10,198,205
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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 PMID:12202987 PMID:12825850 PMID:15731757 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18339844 PMID:18781618 PMID:19533785 PMID:20358619 PMID:21267002 PMID:21270064 PMID:21524434 PMID:22113417 PMID:23228659 PMID:23585368 PMID:24033266 PMID:24055113 PMID:24199744 PMID:24941995 PMID:25326637 PMID:25741868 PMID:25944730 PMID:26017485 PMID:26948038 PMID:27139629 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28492532 PMID:28659821 PMID:28679693 PMID:29168297 PMID:29339704 PMID:29907982 PMID:30222965 PMID:30341550 PMID:30701076 PMID:32528524 PMID:32897753 PMID:33726816 PMID:34572573 More...
NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
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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 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:7887414 PMID:8023157 PMID:8118819 PMID:8164043 PMID:8825920 PMID:9047394 PMID:11101847 PMID:12007217 PMID:12619118 PMID:12826609 PMID:14743206 PMID:15607980 PMID:15607981 PMID:15977174 PMID:16401470 PMID:16489069 PMID:17606709 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19881536 PMID:20128691 PMID:20516128 PMID:20689556 PMID:21305319 PMID:21343334 PMID:21761402 PMID:22006311 PMID:22233476 PMID:22698404 PMID:23161690 PMID:23172776 PMID:23263379 PMID:23713777 PMID:23792586 PMID:24033266 PMID:24573247 PMID:25059482 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27153395 PMID:27374712 PMID:27516001 PMID:28349240 PMID:28492532 PMID:28873162 PMID:29979965 PMID:30224644 PMID:30816478 PMID:31775759 PMID:32000721 PMID:36988593 More...
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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WWOX
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29808465 PMID:30356099 PMID:30853297 PMID:35573960 More...
NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
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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 chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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AKT1
AKT serine/threonine kinase 1
severity
ISO
DNA:SNPs:introns: (rs3803304, rs1130214)
RGD
PMID:19164214
RGD:408345192
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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BIRC7
baculoviral IAP repeat containing 7
disease_progression
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932
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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 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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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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 9:21,803,862...21,831,322
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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 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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DCC
DCC netrin 1 receptor
ISO
ClinVar Annotator: match by term: Esophageal carcinoma, somatic
ClinVar
PMID:8187090
NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
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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 chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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EP300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar
PMID:26619011
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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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 chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
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FBXW7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
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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 chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
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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 chr17:17,541,771...17,551,049
Ensembl chr17:17,758,992...17,768,290
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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 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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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HTRA1
HtrA serine peptidase 1
disease_progression
ISO
mRNA,protein:decreased expression:esophagus (human)
RGD
PMID:22935172
RGD:152985525
NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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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 chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
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KRAS
KRAS proto-oncogene, GTPase
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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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MAP2K7
mitogen-activated protein kinase kinase 7
exacerbates
ISO
mRNA:decreased expression:espohagus (human)
RGD
PMID:32831056
RGD:155630592
NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar
PMID:25157968 PMID:26619011
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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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 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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RHOA
ras homolog family member A
ISO
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:26619011
NCBI chr 3:49,282,009...49,339,887
G
SLC7A5
solute carrier family 7 member 5
severity
ISO
RGD
PMID:15906366
RGD:151361282
NCBI chr16:68,512,407...68,552,763
G
SMAD4
SMAD family member 4
ISO
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 chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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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 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: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:28160093 PMID:28166194 PMID:28271309 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 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: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: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 More...
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
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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 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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BARX1
BARX homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121790
NCBI chr 9:65,071,990...65,151,152
G
BCL2
BCL2 apoptosis regulator
onset
ISO
DNA:SNPs:3'utr: (rs720321, rs17757541) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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BECN1
beclin 1
ISO
RGD
PMID:22301112
RGD:11561943
NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
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BIRC3
baculoviral IAP repeat containing 3
treatment
ISO
RGD
PMID:26291056
RGD:152999007
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
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CASP8
caspase 8
onset
ISO
DNA:SNP:5'utr: (rs1035142) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
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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 chr 6:43,983,840...44,043,029
Ensembl chr 6:45,265,845...45,326,383
G
CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 9:21,803,862...21,831,322
G
CRTC1
CREB regulated transcription coactivator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121790
NCBI chr19:18,123,375...18,221,832
Ensembl chr19:19,131,484...19,228,980
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CTSB
cathepsin B
ISO
RGD
PMID:9770500
RGD:734853
NCBI chr 8:7,333,498...7,359,264
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
onset
ISO
DNA:SNP:5'utr: (rs2445762) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
treatment
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:30187205
RGD:151665176
NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716
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DOCK2
dedicator of cytokinesis 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 5:165,000,368...165,447,148
Ensembl chr 5:171,778,952...172,206,238
G
ELMO1
engulfment and cell motility 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 7:37,493,854...38,085,555
G
EMX2
empty spiracles homeobox 2
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:31432154
RGD:153323302
NCBI chr10:114,124,759...114,132,109
Ensembl chr10:117,551,451...117,557,972
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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 chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
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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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FOXA1
forkhead box A1
ISO
protein:increased expression:esophagus
RGD
PMID:12234996
RGD:151665758
NCBI chr14:18,347,284...18,352,705
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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 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
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GHRL
ghrelin and obestatin prepropeptide
onset
ISO
DNA:SNP:5'utr: (rs696217) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
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GPX3
glutathione peroxidase 3
susceptibility
ISO
DNA:SNPs:intron: (rs4958872, rs3792797) (human)
RGD
PMID:22715394
RGD:152995500
NCBI chr 5:146,447,939...146,456,476
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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 chr17:17,541,771...17,551,049
Ensembl chr17:17,758,992...17,768,290
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GSTM1
glutathione S-transferase mu 1
ISO
DNA:deletion:: (human)
RGD
PMID:17064856
RGD:12792242
Ensembl chr 1:127,979,238...128,010,411
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KDR
kinase insert domain receptor
onset
ISO
DNA:SNP:5'utr: (rs11941492) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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MMP1
matrix metallopeptidase 1
susceptibility
ISO
DNA:insertion:promoter:g.-1607insG rs1799750 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MMP12
matrix metallopeptidase 12
ISO
DNA:snp:promoter:g.-82A>G rs2276109 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
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MMP14
matrix metallopeptidase 14
onset
ISO
DNA:SNP:5'utr: (rs2236302) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
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MMP3
matrix metallopeptidase 3
ISO
DNA:insertion:promoter:g.-1613insA rs3025058 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:esophagus
RGD
PMID:25562781
RGD:13204790
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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NELL1
neural EGFL like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17452981
NCBI chr11:20,697,153...21,600,601
Ensembl chr11:20,607,526...21,508,486
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NOS3
nitric oxide synthase 3
onset
ISO
DNA:SNP:3'utr: (rs2070744) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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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 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
mRNA,protein:increased expression:Esophagus
RGD
PMID:22165968
RGD:5687745
NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283
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PTGS2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein: increased expression: esophagus
CTD RGD
PMID:12055587 PMID:12507933
RGD:13207437
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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SLC22A18
solute carrier family 22 member 18
disease_progression
ISO
DNA:hypermethylation: (human)
RGD
PMID:23243219
RGD:150557426
NCBI chr11:2,927,586...2,950,801
Ensembl chr11:2,956,086...2,978,958
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SMAD4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077 PMID:24952744
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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SMO
smoothened, frizzled class receptor
treatment
ISO
RGD
PMID:23108119
RGD:150340553
NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
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SOD2
superoxide dismutase 2
ISO
RGD
PMID:17785574
RGD:2317403
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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SPART
spartin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr13:17,514,720...17,582,011
Ensembl chr13:35,945,938...35,989,774
G
TLR4
toll like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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TNFRSF10A
TNF receptor superfamily member 10a
onset
ISO
DNA:SNP:3'utr: (rs11775256) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
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TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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VDR
vitamin D receptor
susceptibility disease_progression
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) DNA:amplication: :
RGD
PMID:24951052 PMID:25910066
RGD:11055189 RGD:13432070
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
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LOC100975309
keratin, type I cytoskeletal 14
ISO
protein:increased expression:esophagus
RGD
PMID:16140947
RGD:1600174
NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
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ABCC2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21206495
NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
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ADCYAP1
adenylate cyclase activating polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr18:13,414,618...13,421,668
Ensembl chr18:15,713,479...15,717,749
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ADH1B
alcohol dehydrogenase 1B (class I), beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22960999
NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079
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AJUBA
ajuba LIM protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr14:3,791,309...3,802,763
Ensembl chr14:21,889,443...21,900,700
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AKT1
AKT serine/threonine kinase 1
disease_progression
ISO
protein:increased expression:esophagus (human)
RGD
PMID:32642408
RGD:152995512
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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ALDH2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16639733 PMID:22960999
NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
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ANXA1
annexin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
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ATM
ATM serine/threonine kinase
disease_progression
ISO
Smoke Inhalation Injury; mRNA:increased expression:esophagus (human)
RGD
PMID:17019709
RGD:150340713
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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ATP1B2
ATPase Na+/K+ transporting subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr17:7,681,831...7,688,710
Ensembl chr17:7,669,626...7,673,834
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AXIN1
axin 1
disease_progression
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:12771989
RGD:150530473
Ensembl chr16:278,239...337,891
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AZIN1
antizyme inhibitor 1
ISO
RGD
PMID:24302582
RGD:14700707
NCBI chr 8:99,483,027...99,521,151
Ensembl chr 8:101,639,950...101,678,604
G
B2M
beta-2-microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
G
BLVRB
biliverdin reductase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr19:37,496,344...37,516,127
Ensembl chr19:46,007,321...46,025,120
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BMI1
BMI1 proto-oncogene, polycomb ring finger
ISO
RGD
PMID:21165554
RGD:126781701
NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479
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BMP6
bone morphogenetic protein 6
ISO
protein:increased expression:esophagus
RGD
PMID:22364398
RGD:7242413
NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649
G
BRCA1
BRCA1 DNA repair associated
ISO
DNA:SNP: :rs799917 (human)
RGD
PMID:23749772
RGD:126925960
NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
G
BRCA2
BRCA2 DNA repair associated
ISO
DNA:nonsense mutation: :p.K3326X (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
G
BST2
bone marrow stromal cell antigen 2
disease_progression
ISO
RGD
PMID:26832883
RGD:14398496
NCBI chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728
G
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
G
CA1
carbonic anhydrase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 8:81,854,390...81,905,728
Ensembl chr 8:83,463,434...83,526,899
G
CA12
carbonic anhydrase 12
severity
ISO
RGD
PMID:26316888
RGD:155226859
NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008
G
CA2
carbonic anhydrase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580
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 chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
G
CAPZA1
capping actin protein of muscle Z-line subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:115,273,497...115,324,353
Ensembl chr 1:125,028,519...125,078,892
G
CASP8
caspase 8
exacerbates
ISO
mRNA,protein:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
G
CBX8
chromobox 8
severity
ISO
mRNA:increased expression:esophagus:
RGD
PMID:25197352
RGD:9587436
NCBI chr17:73,874,618...73,877,347
Ensembl chr17:79,410,967...79,413,691
G
CCHCR1
coiled-coil alpha-helical rod protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr 6:30,888,542...30,904,382
Ensembl chr 6:31,753,777...31,772,934
G
CCND1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr11:64,737,006...64,750,353
G
CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15375580
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
G
CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 9:21,803,862...21,831,322
G
CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
DNA:SNPs: :rs615552, rs573687 (human)
RGD
PMID:23361049
RGD:7248756
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
G
CFL1
cofilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806
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 chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376
G
CHRNB4
cholinergic receptor nicotinic beta 4 subunit
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024
RGD:151361143
NCBI chr15:57,552,697...57,570,828
Ensembl chr15:76,515,455...76,532,712
G
CLIC1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 6:31,391,958...31,397,920
Ensembl chr 6:32,280,645...32,286,621
G
CLPTM1L
CLPTM1 like
susceptibility no_association
ISO
DNA:SNP: :rs451360(human) mRNA:increased expression:esophagus DNA:SNP: :rs401681(human)
RGD
PMID:24386361 PMID:25007268 PMID:25480402 PMID:26716642
RGD:11572962 RGD:150530488 RGD:150530497 RGD:150537098
Ensembl chr 5:1,361,571...1,388,415
G
COL14A1
collagen type XIV alpha 1 chain
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr 8:116,818,467...117,065,385
Ensembl chr 8:119,610,929...119,831,880
G
CRABP1
cellular retinoic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17438526
NCBI chr15:57,269,794...57,277,697
Ensembl chr15:76,234,401...76,242,311
G
CREBBP
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
G
CSF1R
colony stimulating factor 1 receptor
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:32038997
RGD:150524298
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
G
CSTB
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr21:30,030,359...30,032,899
G
CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
ClinVar
PMID:25157968 PMID:25741868 PMID:26619011
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
G
CXCL8
C-X-C motif chemokine ligand 8
severity
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:31423201
RGD:150520019
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
G
CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
RGD
PMID:11860825
RGD:14700943
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
G
CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
protein:increased expression:esophagus (rat)
RGD
PMID:18618592
RGD:7829715
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
G
CYP24A1
cytochrome P450 family 24 subfamily A member 1
susceptibility
ISO
DNA:SNP:CDS: (rs2296241) (human)
RGD
PMID:28362172
RGD:151665500
NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716
G
CYP26B1
cytochrome P450 family 26 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr2A:72,172,658...72,191,410
Ensembl chr2A:73,670,830...73,686,433
G
DAB2IP
DAB2 interacting protein
severity
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:30464518
RGD:151665168
NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336
G
DCC
DCC netrin 1 receptor
ISO
OMIM
NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
G
DIDO1
death inducer-obliterator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr20:59,264,759...59,325,092
Ensembl chr20:60,556,923...60,617,265
G
DNMT3B
DNA methyltransferase 3 beta
disease_progression
ISO
protein:increased expression:nucleus:
RGD
PMID:22213175
RGD:9589085
NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
G
DPP4
dipeptidyl peptidase 4
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr2B:49,285,685...49,368,056
Ensembl chr2B:166,654,659...166,736,588
G
EFNB2
ephrin B2
severity ameliorates exacerbates
ISO
mRNA:increased expression:esophagus squamous epithelium (human) human cells in mouse model mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:17611172 PMID:29190834 PMID:31885720
RGD:153300947 RGD:153300948 RGD:153300949
NCBI chr13:87,629,831...87,675,652
Ensembl chr13:106,770,296...106,815,548
G
EGFR
epidermal growth factor receptor
severity
ISO
protein:increased expression:esophagus (human) ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
RGD ClinVar
PMID:10385363 PMID:23485129 PMID:25157968
RGD:5131486
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
G
EHMT1
euchromatic histone lysine methyltransferase 1
disease_progression
ISO
protein:increased expression:esophagus: protein:increased expression:esophagus mucosa:
RGD
PMID:24649311 PMID:24805087
RGD:9589143 RGD:9590071
NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564
G
EHMT2
euchromatic histone lysine methyltransferase 2
disease_progression
ISO
protein:increased expression:esophagus mucosa:
RGD
PMID:24805087
RGD:9590071
NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844
G
EP300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17965222 PMID:25151357
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
G
EPB41L3
erythrocyte membrane protein band 4.1 like 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr18:8,656,684...8,894,170
Ensembl chr18:10,993,680...11,210,416
G
EPHB4
EPH receptor B4
exacerbates
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
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 chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
G
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
RGD
PMID:23263828
RGD:11252162
NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
G
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
RGD
PMID:21165554 PMID:25613619
RGD:126781697 RGD:126781701
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
G
FANCA
FA complementation group A
ISO
DNA:missense mutation: :p.S858R (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
G
FAP
fibroblast activation protein alpha
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr2B:49,464,199...49,537,284
Ensembl chr2B:166,832,963...166,904,950
G
FASN
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647
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 chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357
G
FAT2
FAT atypical cadherin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 5:146,927,558...147,014,920
Ensembl chr 5:152,932,400...152,995,784
G
FAT3
FAT atypical cadherin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr11:87,242,937...87,921,955
G
FAT4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
G
FBXW7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
G
FES
FES proto-oncogene, tyrosine kinase
exacerbates
ISO
DNA:hypermethylation: (human)
RGD
PMID:24936140
RGD:153323298
NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965
G
FGFR4
fibroblast growth factor receptor 4
treatment
ISO
RGD
PMID:25989802
RGD:150520041
NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605
G
FKBP1A
FKBP prolyl isomerase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:1,519,330...1,548,473
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 chr14:18,347,284...18,352,705
G
FUBP1
far upstream element binding protein 1
exacerbates
ISO
mRNA:increased expression:esophagus (human) protein:increased expression:esophagus (human)
RGD
PMID:26490982 PMID:32481602
RGD:151361192 RGD:151361197
NCBI chr 1:77,162,675...77,198,486
G
GDI2
GDP dissociation inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:5,806,336...5,854,676
Ensembl chr10:5,789,496...5,839,003
G
GLO1
glyoxalase I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 6:38,247,881...38,275,098
Ensembl chr 6:39,434,746...39,461,971
G
GPX3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929 PMID:30018730
RGD:151665494 RGD:151665741
NCBI chr 5:146,447,939...146,456,476
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 chr17:17,541,771...17,551,049
Ensembl chr17:17,758,992...17,768,290
G
GSTM1
glutathione S-transferase mu 1
no_association
ISO
RGD
PMID:11860825 PMID:17916905 PMID:25432134
RGD:14700943 RGD:14700948 RGD:14700982
Ensembl chr 1:127,979,238...128,010,411
G
GSTO1
glutathione S-transferase omega 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:100,853,682...100,866,892
Ensembl chr10:104,313,024...104,325,733
G
GSTP1
glutathione S-transferase pi 1
ISO
DNA:polymorphism: :p.I105V (human)
RGD
PMID:17916905
RGD:14700982
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
G
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17201171
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
G
HMGB1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527
G
HMGN5
high mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28914995
NCBI chr X:70,180,585...70,268,545
G
HOXB7
homeobox B7
severity
ISO
protein:increased expression:esophageal mucosa (human)
RGD
PMID:26076456
RGD:10402177
NCBI chr17:8,925,717...8,929,523
Ensembl chr17:9,110,864...9,114,639
G
HSPA5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
G
HTRA1
HtrA serine peptidase 1
exacerbates ameliorates
ISO
mRNA,protein:decreased expression:epithelium of esophagus (human) human gene and cells in mouse model
RGD
PMID:23079781
RGD:152975633
NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
G
IDH2
isocitrate dehydrogenase (NADP(+)) 2
severity
ISO
human cells in mouse model
RGD
PMID:32367071
RGD:149735568
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
G
JAK2
Janus kinase 2
severity
ISO
protein:increased phosphorylation:esophagus squamous epithelium (human)
RGD
PMID:32158193
RGD:127285669
NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
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 chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
G
KAT2B
lysine acetyltransferase 2B
ISO
mRNA:decreased expression:esophagus (human)
RGD
PMID:19525977
RGD:9590307
NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770
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 chr 9:6,568,569...6,978,741
Ensembl chr 9:6,746,265...7,155,298
G
KDM5B
lysine demethylase 5B
severity
ISO
protein:increased expression:esophageal mucosa, cytoplasm (human)
RGD
PMID:22534467
RGD:9587776
NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994
G
KDM6A
lysine demethylase 6A
ameliorates
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:esophagus (human) protein:increased expression:esophagus (human) DNA:mutations:multiple (human)
CTD RGD
PMID:25151357 PMID:29351209 PMID:31804468
RGD:150429739 RGD:150429742 RGD:9588233
NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029
G
KMT2C
lysine methyltransferase 2C
ISO
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:25151357
RGD:9588233
NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
G
KMT2D
lysine methyltransferase 2D
ISO
DNA:mutations:multiple (human) mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:25151357 PMID:29532228
RGD:150521712 RGD:9588233
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
G
KRT16
keratin 16
ISO
RGD
PMID:8950218
RGD:633113
NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
G
KRT19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:15,788,355...15,793,127
Ensembl chr17:16,006,608...16,010,782
G
KRT7
keratin 7
disease_progression
ISO
RGD
PMID:29788741
RGD:151665759
NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341
G
LOC100969764
sulfotransferase 1A1
ISO
DNA:SNP:exon:p.R213H, 638G>A (human)
RGD
PMID:12455060
RGD:1581448
G
LOC100975309
keratin, type I cytoskeletal 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
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LOC100976433
keratin, type I cytoskeletal 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079
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LOC100977072
neuronal acetylcholine receptor subunit alpha-7
disease_progression exacerbates
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024 PMID:33603170
RGD:151361143 RGD:151667905
NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194
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LOC100977112
keratin, type I cytoskeletal 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:15,811,095...15,815,783
Ensembl chr17:16,028,747...16,033,434
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LOC100980965
zinc-alpha-2-glycoprotein
disease_progression
ISO
RGD
PMID:28053542
RGD:153350138
NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219
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LOC100992963
tenascin-X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155
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LOXL2
lysyl oxidase like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24716982
NCBI chr 8:22,547,303...22,653,676
Ensembl chr 8:19,483,335...19,589,522
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LTA
lymphotoxin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
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LZTS1
leucine zipper tumor suppressor 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition
OMIM ClinVar
PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532
NCBI chr 8:19,471,361...19,529,437
Ensembl chr 8:16,418,496...16,476,111
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MAD2L1
mitotic arrest deficient 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr 4:112,247,808...112,255,202
Ensembl chr 4:123,397,355...123,405,535
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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 chr 5:57,116,405...57,197,017
Ensembl chr 5:58,745,579...58,826,959
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MBD4
methyl-CpG binding domain 4, DNA glycosylase
susceptibility
ISO
DNA:snp:intron:IVS5-140A>G (rs3138355) (human) DNA:snp:cds:p.E346K (rs140693) (human)
RGD
PMID:15205355 PMID:25162968
RGD:9588976 RGD:9588980
NCBI chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450
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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:21674174 PMID:25520135
RGD:126790574
NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
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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 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
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MMP14
matrix metallopeptidase 14
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
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MMP2
matrix metallopeptidase 2
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MMP9
matrix metallopeptidase 9
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MSH2
mutS homolog 2
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:esophagus DNA, protein:hypermethylation, decreased expression:promoter, esophagus
RGD
PMID:21674174 PMID:22265839 PMID:24366688
RGD:126790560 RGD:126790573 RGD:126790574
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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MT1X
metallothionein 1X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr16:36,959,854...36,961,632
Ensembl chr16:56,092,218...56,093,976
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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NOTCH1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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NOTCH2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
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NOTCH3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38467300
NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
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PAGR1
PAXIP1 associated glutamate rich protein 1
ISO
mRNA, protein:decreased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
Ensembl chr16:30,186,326...30,190,654
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PBX3
PBX homeobox 3
ISO
RNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32449803
RGD:153345544
NCBI chr 9:96,867,140...97,089,205
Ensembl chr 9:125,379,489...125,598,178
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PFN1
profilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:4,993,853...4,996,811
Ensembl chr17:4,981,765...4,985,022
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PLCE1
phospholipase C epsilon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729852 PMID:20729853
NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024
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PRDX1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018
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PSMB9
proteasome 20S subunit beta 9
disease_progression
ISO
RGD
PMID:19492245
RGD:6482249
NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
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PSME1
proteasome activator subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405
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PSME2
proteasome activator subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296
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PTCH1
patched 1
disease_progression
ISO
RGD
PMID:16475698
RGD:150523841
NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15756444 PMID:16543248 PMID:18197933
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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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 chr20:38,399,267...39,526,776
Ensembl chr20:39,502,794...40,317,701
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RB1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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RICTOR
RPTOR independent companion of MTOR complex 2
severity disease_progression
ISO
protein:increased expression:esophagus (human) human cells in mouse model
RGD
PMID:28132115 PMID:30119206 PMID:32642408
RGD:152995460 RGD:152995470 RGD:152995512
NCBI chr 5:71,299,215...71,435,290
Ensembl chr 5:76,389,130...76,469,830
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RNF6
ring finger protein 6
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
ClinVar OMIM
PMID:12154016
NCBI chr13:7,505,669...7,515,542
Ensembl chr13:25,854,765...25,864,629
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RUNX2
RUNX family transcription factor 2
ISO
mRNA:increased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389
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RUNX3
RUNX family transcription factor 3
disease_progression
ISO
mRNA:decreased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
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SALL4
spalt like transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589
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SETD5
SET domain containing 5
disease_progression
ISO
RGD
PMID:31981592
RGD:155804254
NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
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SFN
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
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SLC16A10
solute carrier family 16 member 10
ISO
protein:increased expression:esophagus
RGD
PMID:33609949
RGD:151361149
NCBI chr 6:108,889,644...109,037,479
Ensembl chr 6:112,968,668...113,106,721
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SLC1A5
solute carrier family 1 member 5
disease_progression
ISO
protein:increased expression:esophagus
RGD
PMID:26936531 PMID:33609949
RGD:11532833 RGD:151361149
NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
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SLC39A6
solute carrier family 39 member 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23644492
NCBI chr18:29,361,261...29,382,115
Ensembl chr18:32,919,878...32,940,694
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SLC52A3
solute carrier family 52 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729853
NCBI chr20:970,380...986,368
Ensembl chr20:739,556...755,486
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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 chr16:68,512,407...68,552,763
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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 chr16:10,196,432...10,198,205
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18167182 PMID:21517111
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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SOX2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19801978
NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
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SPEN
spen family transcriptional repressor
ISO
associated with Neoplasm Metastasis; DNA:mutations
RGD
PMID:33363385
RGD:151347445
NCBI chr 1:14,987,415...15,079,477
Ensembl chr 1:16,004,473...16,072,585
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STIM1
stromal interaction molecule 1
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:31843504
RGD:152995393
NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846
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TAGLN
transgelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129
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TAP1
transporter 1, ATP binding cassette subfamily B member
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
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TAP2
transporter 2, ATP binding cassette subfamily B member
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
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TCN2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494
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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:15112252 PMID:25007268 PMID:26716642
RGD:11572962 RGD:150530488 RGD:152977757
Ensembl chr 5:1,300,960...1,338,872
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TET2
tet methylcytosine dioxygenase 2
severity
ISO
associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) DNA:mutations
RGD
PMID:26093090 PMID:26873401 PMID:27050164
RGD:11528815 RGD:150429656 RGD:150429668
NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400
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TET3
tet methylcytosine dioxygenase 3
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:27050164
RGD:150429668
NCBI chr2A:74,058,948...74,180,046
Ensembl chr2A:75,568,636...75,682,701
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TGFBR2
transforming growth factor beta receptor 2
ISO
OMIM
NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
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TNFAIP3
TNF alpha induced protein 3
severity
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:28197630
RGD:151347617
NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819
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TNFAIP8
TNF alpha induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21969086
NCBI chr 5:114,657,140...114,784,819
Ensembl chr 5:120,442,500...120,569,877
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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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TPI1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612
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TPM1
tropomyosin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530
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TPM2
tropomyosin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
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TXNDC17
thioredoxin domain containing 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:6,678,375...6,680,902
Ensembl chr17:6,666,067...6,668,475
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TYMP
thymidine phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11641616
NCBI chr22:30,772,088...30,776,618
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USP8
ubiquitin specific peptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35022897
NCBI chr15:29,374,945...29,451,235
Ensembl chr15:47,713,997...47,790,624
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VENTX
VENT homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
Ensembl chr10:134,144,411...134,149,277
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WRAP53
WD repeat containing antisense to TP53
disease_progression
ISO
RGD
PMID:24626331
RGD:21081532
NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
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WWOX
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
ClinVar OMIM
PMID:11956080 PMID:28492532
NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
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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 chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793
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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 chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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ZCCHC12
zinc finger CCHC-type containing 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr X:107,831,784...107,834,964
Ensembl chr X:118,299,326...118,300,534
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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 PMID:28492532 More...
NCBI chr17:70,418,630...70,449,510
Ensembl chr17:75,968,187...75,987,768
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