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: esophagus squamous cell carcinoma
Accession: DOID:3748
browse the term
Definition: An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. (DO)
Synonyms: exact_synonym: SCC of esophagus; SCC of oesophagus; esophageal squamous cell carcinoma; oesophagus squamous cell carcinoma; squamous cell carcinoma of esophagus
narrow_synonym: Esophageal squamous cell carcinoma, somatic; LZTS1-RELATED CONDITION
related_synonym: ESCC, SUSCEPTIBILITY TO
primary_id: MESH:D000077277
alt_id: OMIM:133239
xref: EFO:0005922 ; NCI:C191763 ; NCI:C4024
For additional species annotation, visit the
Alliance of Genome Resources .
GViewer not supported for the selected species.
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ABCC2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21206495
NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265
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ADCYAP1
adenylate cyclase activating polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr18:60,259,479...60,267,302
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AJUBA
ajuba LIM protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr29:23,341,841...23,352,630
Ensembl chr29:23,341,249...23,352,685
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AKT1
AKT serine/threonine kinase 1
disease_progression
ISO
protein:increased expression:esophagus (human)
RGD
PMID:32642408
RGD:152995512
NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698
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ALDH2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16639733 PMID:22960999
NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374
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ANXA1
annexin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562
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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 chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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ATP1B2
ATPase Na+/K+ transporting subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr16:7,030,016...7,035,620
Ensembl chr16:7,030,055...7,037,754
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AXIN1
axin 1
disease_progression
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:12771989
RGD:150530473
NCBI chr 5:233,520...295,134
Ensembl chr 5:234,060...290,575
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AZGP1
alpha-2-glycoprotein 1, zinc-binding
disease_progression
ISO
RGD
PMID:28053542
RGD:153350138
NCBI chr28:13,104,262...13,120,329
Ensembl chr28:13,104,323...13,120,363
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AZIN1
antizyme inhibitor 1
ISO
RGD
PMID:24302582
RGD:14700707
NCBI chr 8:97,679,775...97,717,486
Ensembl chr 8:97,679,468...97,696,928
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B2M
beta-2-microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809
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BLVRB
biliverdin reductase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 6:34,902,632...34,925,105
Ensembl chr 6:34,902,598...34,925,100
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BMI1
BMI1 proto-oncogene, polycomb ring finger
ISO
RGD
PMID:21165554
RGD:126781701
NCBI chr 9:22,095,592...22,104,894
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BMP6
bone morphogenetic protein 6
ISO
protein:increased expression:esophagus
RGD
PMID:22364398
RGD:7242413
NCBI chr17:64,279,243...64,436,356
Ensembl chr17:64,280,609...64,435,382
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BRCA1
BRCA1 DNA repair associated
ISO
DNA:SNP: :rs799917 (human)
RGD
PMID:23749772
RGD:126925960
NCBI chr16:63,162,827...63,243,928
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BRCA2
BRCA2 DNA repair associated
ISO
DNA:nonsense mutation: :p.K3326X (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
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BST2
bone marrow stromal cell antigen 2
disease_progression
ISO
RGD
PMID:26832883
RGD:14398496
NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060
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BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr26:42,769,955...42,855,353
Ensembl chr26:42,792,830...42,855,306
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CA1
carbonic anhydrase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 8:80,699,114...80,729,932
Ensembl chr 8:80,699,651...80,712,858
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CA12
carbonic anhydrase 12
severity
ISO
RGD
PMID:26316888
RGD:155226859
NCBI chr26:20,162,706...20,221,680
Ensembl chr26:20,162,926...20,224,502
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CA2
carbonic anhydrase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 8:80,830,963...80,848,245
Ensembl chr 8:80,830,939...80,848,707
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CALR
calreticulin
ameliorates
ISO
CTD Direct Evidence: marker/mechanism human cells in a mouse model
CTD RGD
PMID:19684620 PMID:21517111 PMID:23814025
RGD:150521679 RGD:150521703
NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792
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CAPZA1
capping actin protein of muscle Z-line subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:20,968,348...21,017,256
Ensembl chr20:20,969,828...20,991,971
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CASP8
caspase 8
exacerbates
ISO
mRNA,protein:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829
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CBX8
chromobox 8
severity
ISO
mRNA:increased expression:esophagus:
RGD
PMID:25197352
RGD:9587436
NCBI chr16:71,755,598...71,760,611
Ensembl chr16:71,755,627...71,760,632
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CCHCR1
coiled-coil alpha-helical rod protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr17:41,319,392...41,334,661
Ensembl chr17:41,319,423...41,334,502
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CCND1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15375580
NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
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CFL1
cofilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:8,408,560...8,410,564
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CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO
DNA:SNP: :rs667282(human) mRNA:increased expression:esophagus (human)
RGD
PMID:23844051 PMID:27610024
RGD:150524358 RGD:151361143
NCBI chr26:4,747,734...4,779,231
Ensembl chr26:4,749,766...4,776,822
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CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
exacerbates disease_progression
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024 PMID:33603170
RGD:151361143 RGD:151667905
NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803
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CHRNB4
cholinergic receptor nicotinic beta 4 subunit
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024
RGD:151361143
NCBI chr26:4,700,217...4,717,363
Ensembl chr26:4,701,321...4,719,319
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CLIC1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:40,286,051...40,292,377
Ensembl chr17:40,286,491...40,292,113
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CLPTM1L
CLPTM1 like
susceptibility no_association
ISO
DNA:SNP: :rs401681(human) mRNA:increased expression:esophagus DNA:SNP: :rs451360(human)
RGD
PMID:24386361 PMID:25007268 PMID:25480402 PMID:26716642
RGD:11572962 RGD:150530488 RGD:150530497 RGD:150537098
NCBI chr 4:1,140,272...1,162,663
Ensembl chr 4:1,140,132...1,162,898
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COL14A1
collagen type XIV alpha 1 chain
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr 8:114,701,662...114,946,216
Ensembl chr 8:114,701,664...114,887,483
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CRABP1
cellular retinoic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17438526
NCBI chr26:4,987,927...4,996,431
Ensembl chr26:4,987,882...4,996,343
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CREBBP
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943
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CSF1R
colony stimulating factor 1 receptor
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:32038997
RGD:150524298
NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304
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CSTB
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:87,551,341...87,555,145
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CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
ClinVar
PMID:25157968 PMID:25741868 PMID:26619011
NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
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CXCL8
C-X-C motif chemokine ligand 8
severity
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:31423201
RGD:150520019
NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068
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CXCR4
C-X-C motif chemokine receptor 4
disease_progression
ISO
protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:17171785
RGD:152023646
NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
RGD
PMID:11860825
RGD:14700943
NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
protein:increased expression:esophagus (rat)
RGD
PMID:18618592
RGD:7829715
NCBI chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
susceptibility
ISO
DNA:SNP:CDS: (rs2296241) (human)
RGD
PMID:28362172
RGD:151665500
NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884
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CYP26B1
cytochrome P450 family 26 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr14:35,030,011...35,057,164
Ensembl chr14:35,038,654...35,057,176
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DAB2IP
DAB2 interacting protein
severity
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:30464518
RGD:151665168
NCBI chr12:17,802,030...18,017,648
Ensembl chr12:17,801,831...17,830,890
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DCC
DCC netrin 1 receptor
ISO
OMIM
NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697
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DIDO1
death inducer-obliterator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr 2:1,285,027...1,345,726
Ensembl chr 2:1,285,051...1,345,846
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DNMT3B
DNA methyltransferase 3 beta
disease_progression
ISO
protein:increased expression:nucleus:
RGD
PMID:22213175
RGD:9589085
NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570
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DPP4
dipeptidyl peptidase 4
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr10:47,396,605...47,481,478
Ensembl chr10:47,394,093...47,480,893
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EFNB2
ephrin B2
severity exacerbates ameliorates
ISO
mRNA:increased expression:esophagus squamous epithelium (human) mRNA,protein:increased expression:esophagus squamous epithelium (human) human cells in mouse model
RGD
PMID:17611172 PMID:29190834 PMID:31885720
RGD:153300947 RGD:153300948 RGD:153300949
NCBI chr 3:84,904,421...84,949,292
Ensembl chr 3:84,904,435...84,949,465
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EGFR
epidermal growth factor receptor
severity
ISO
protein:increased expression:esophagus (human) ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
RGD ClinVar
PMID:10385363 PMID:23485129 PMID:25157968
RGD:5131486
NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239
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EHMT1
euchromatic histone lysine methyltransferase 1
disease_progression
ISO
protein:increased expression:esophagus: protein:increased expression:esophagus mucosa:
RGD
PMID:24649311 PMID:24805087
RGD:9589143 RGD:9590071
NCBI chr12:380,041...545,333
Ensembl chr12:379,943...497,033
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EHMT2
euchromatic histone lysine methyltransferase 2
disease_progression
ISO
protein:increased expression:esophagus mucosa:
RGD
PMID:24805087
RGD:9590071
NCBI chr17:40,123,935...40,141,942
Ensembl chr17:40,124,640...40,141,616
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EP300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17965222 PMID:25151357
NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979
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EPB41L3
erythrocyte membrane protein band 4.1 like 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr18:64,489,194...64,704,733
Ensembl chr18:64,489,042...64,585,973
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EPHB4
EPH receptor B4
exacerbates
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920
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ERBB4
erb-b2 receptor tyrosine kinase 4
disease_progression susceptibility
ISO
protein:altered localization:nucleus DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
RGD
PMID:18000820 PMID:24916311
RGD:126781764 RGD:126781765
NCBI chr10:97,099,090...98,281,697
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ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
RGD
PMID:23263828
RGD:11252162
NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
RGD
PMID:21165554 PMID:25613619
RGD:126781697 RGD:126781701
NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573
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FANCA
FA complementation group A
ISO
DNA:missense mutation: :p.S858R (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591
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FAP
fibroblast activation protein alpha
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr10:47,578,164...47,652,179
Ensembl chr10:47,577,888...47,652,689
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FASN
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr16:73,988,410...74,008,374
Ensembl chr16:73,982,899...74,006,551
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FAT1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:esophagus squamous epithelium (human)
CTD RGD
PMID:24590895 PMID:25151357 PMID:29365412
RGD:151347630 RGD:151347646
NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112
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FAT2
FAT atypical cadherin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr23:54,064,687...54,152,696
Ensembl chr23:54,064,393...54,152,416
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FAT3
FAT atypical cadherin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 1:83,471,266...84,159,858
Ensembl chr 1:83,609,116...84,158,537
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FAT4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546
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FBXW7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084
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FES
FES proto-oncogene, tyrosine kinase
exacerbates
ISO
DNA:hypermethylation: (human)
RGD
PMID:24936140
RGD:153323298
NCBI chr29:8,967,542...8,979,475
Ensembl chr29:8,965,997...8,979,361
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FGFR4
fibroblast growth factor receptor 4
treatment
ISO
RGD
PMID:25989802
RGD:150520041
NCBI chr23:79,095,031...79,106,018
Ensembl chr23:79,097,429...79,105,456
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FKBP1A
FKBP prolyl isomerase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:55,170,816...55,195,380
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FOXA1
forkhead box A1
onset
ISO
DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human)
RGD
PMID:27050876 PMID:29788741
RGD:151665743 RGD:151665759
NCBI chr24:14,397,759...14,403,078
Ensembl chr24:14,396,702...14,403,094
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FUBP1
far upstream element binding protein 1
exacerbates
ISO
protein:increased expression:esophagus (human) mRNA:increased expression:esophagus (human)
RGD
PMID:26490982 PMID:32481602
RGD:151361192 RGD:151361197
NCBI chr20:55,194,681...55,233,666
Ensembl chr20:55,194,743...55,230,277
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GDI2
GDP dissociation inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:5,876,245...5,923,011
Ensembl chr 9:5,877,042...5,922,968
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GLO1
glyoxalase I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:33,446,134...33,472,240
Ensembl chr17:33,446,145...33,473,699
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GPX3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929 PMID:30018730
RGD:151665494 RGD:151665741
NCBI chr23:53,576,950...53,585,321
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GRB7
growth factor receptor bound protein 7
exacerbates
ISO
protein:increased expression:esophagus (human) mRNA:increased expression:esophagus mucosa (human)
RGD
PMID:10797316 PMID:26465158
RGD:151347654 RGD:151347661
NCBI chr16:66,416,978...66,427,035
Ensembl chr16:66,416,904...66,426,300
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GSTO1
glutathione S-transferase omega 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:97,305,094...97,317,892
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GSTP1
glutathione S-transferase pi 1
ISO
DNA:polymorphism: :p.I105V (human)
RGD
PMID:17916905
RGD:14700982
NCBI chr 1:6,676,897...6,679,936
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17201171
NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
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HMGB1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 3:9,353,333...9,357,765
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HMGN5
high mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28914995
NCBI chr X:70,103,170...70,201,472
Ensembl chr X:70,102,034...70,111,019
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HOXB7
homeobox B7
severity
ISO
protein:increased expression:esophageal mucosa (human)
RGD
PMID:26076456
RGD:10402177
NCBI chr16:69,020,325...69,024,362
Ensembl chr16:69,020,906...69,023,671
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HSPA5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431
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HTRA1
HtrA serine peptidase 1
exacerbates ameliorates
ISO
mRNA,protein:decreased expression:epithelium of esophagus (human) human gene and cells in mouse model
RGD
PMID:23079781
RGD:152975633
NCBI chr 9:115,197,543...115,250,092
Ensembl chr 9:115,197,566...115,253,919
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JAK2
Janus kinase 2
severity
ISO
protein:increased phosphorylation:esophagus squamous epithelium (human)
RGD
PMID:32158193
RGD:127285669
NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:19758438 PMID:30227324
RGD:151347669 RGD:151347672
NCBI chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450
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KAT2B
lysine acetyltransferase 2B
ISO
mRNA:decreased expression:esophagus (human)
RGD
PMID:19525977
RGD:9590307
NCBI chr15:64,769,590...64,885,536
Ensembl chr15:64,770,185...64,886,219
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KDM4C
lysine demethylase 4C
severity susceptibility
ISO
protein:increased expression:esophageal epithelium, nucleus (human) DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
RGD
PMID:15805246 PMID:24224128
RGD:9587746 RGD:9587752
NCBI chr12:72,346,194...72,763,040
Ensembl chr12:72,347,071...72,761,666
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KDM5B
lysine demethylase 5B
severity
ISO
protein:increased expression:esophageal mucosa, cytoplasm (human)
RGD
PMID:22534467
RGD:9587776
NCBI chr25:26,599,740...26,685,256
Ensembl chr25:26,600,736...26,683,632
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KDM6A
lysine demethylase 6A
ameliorates
ISO
DNA:mutations:multiple (human) protein:increased expression:esophagus (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:esophagus (human)
RGD CTD
PMID:25151357 PMID:29351209 PMID:31804468
RGD:150429739 RGD:150429742 RGD:9588233
NCBI chr X:42,053,272...42,291,013
Ensembl chr X:42,053,336...42,290,526
G
KMT2C
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
CTD RGD
PMID:25151357
RGD:9588233
NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137
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KMT2D
lysine methyltransferase 2D
ISO
DNA:mutations:multiple (human) mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:25151357 PMID:29532228
RGD:150521712 RGD:9588233
NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423
G
KRT13
keratin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr16:64,735,285...64,740,791
G
KRT16
keratin 16
ISO
RGD
PMID:8950218
RGD:633113
NCBI chr16:64,629,385...64,633,125
Ensembl chr16:64,630,042...64,633,114
G
KRT17
keratin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr16:64,615,194...64,622,931
Ensembl chr16:64,617,219...64,622,971
G
KRT19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr16:64,714,497...64,719,805
Ensembl chr16:64,714,970...64,719,678
G
KRT7
keratin 7
disease_progression
ISO
RGD
PMID:29788741
RGD:151665759
NCBI chr11:48,379,460...48,394,638
Ensembl chr11:48,379,465...48,394,643
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LOC103219825
protein patched homolog 1
disease_progression
ISO
RGD
PMID:16475698
RGD:150523841
NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
G
LOC103221937
histone H2B type 1-M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:44,715,875...44,716,426
Ensembl chr17:44,715,922...44,716,299
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LOC103224275
glutathione S-transferase Mu 1
no_association
ISO
RGD
PMID:11860825 PMID:17916905 PMID:25432134
RGD:14700943 RGD:14700948 RGD:14700982
NCBI chr20:23,854,969...23,861,634
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LOC103231165
isocitrate dehydrogenase (NADP(+)) 2
severity
ISO
human cells in mouse model
RGD
PMID:32367071
RGD:149735568
NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657
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LOC103233044
metallothionein-1X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr 5:42,637,027...42,638,751
Ensembl chr 5:42,637,113...42,638,611
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LOC103243443
keratin, type I cytoskeletal 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319
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LOXL2
lysyl oxidase like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24716982
NCBI chr 8:21,416,821...21,516,923
Ensembl chr 8:21,416,787...21,516,854
G
LTA
lymphotoxin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
G
LZTS1
leucine zipper tumor suppressor 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition
OMIM ClinVar
PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532
NCBI chr 8:18,315,243...18,377,492
Ensembl chr 8:18,315,130...18,324,345
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MAD2L1
mitotic arrest deficient 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr 7:67,351,785...67,360,244
G
MAP3K1
mitogen-activated protein kinase kinase kinase 1
sexual_dimorphism
ISO
DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human)
RGD
PMID:32753933
RGD:150573717
NCBI chr 4:53,040,731...53,120,784
Ensembl chr 4:53,084,023...53,120,772
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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 chr22:51,616,840...51,626,232
Ensembl chr22:51,616,803...51,626,224
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MGMT
O-6-methylguanine-DNA methyltransferase
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, esophagus CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21674174 PMID:25520135
RGD:126790574
NCBI chr 9:122,089,768...122,376,320
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MLH1
mutL homolog 1
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
RGD
PMID:21674174
RGD:126790574
NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393
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MMP14
matrix metallopeptidase 14
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679
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MMP2
matrix metallopeptidase 2
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
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MMP9
matrix metallopeptidase 9
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
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MSH2
mutS homolog 2
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, esophagus DNA, protein:hypermethylation, decreased expression:esophagus
RGD
PMID:21674174 PMID:22265839 PMID:24366688
RGD:126790560 RGD:126790573 RGD:126790574
NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339
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NOTCH1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585
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NOTCH2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784
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NOTCH3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359
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PAGR1
PAXIP1 associated glutamate rich protein 1
ISO
mRNA, protein:decreased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
NCBI chr 5:26,833,333...26,837,655
Ensembl chr 5:26,833,675...26,837,640
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PBX3
PBX homeobox 3
ISO
RNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32449803
RGD:153345544
NCBI chr12:12,174,407...12,400,184
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PFN1
profilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr16:4,426,853...4,430,259
Ensembl chr16:4,426,962...4,429,713
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PLCE1
phospholipase C epsilon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729852 PMID:20729853
NCBI chr 9:87,214,166...87,559,010
Ensembl chr 9:87,214,355...87,555,733
G
PRDX1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:87,267,026...87,277,634
Ensembl chr20:87,267,044...87,279,978
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PSMB9
proteasome 20S subunit beta 9
disease_progression
ISO
RGD
PMID:19492245
RGD:6482249
NCBI chr17:39,246,356...39,251,852
Ensembl chr17:39,245,854...39,251,842
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PSME1
proteasome activator subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr24:1,122,086...1,124,907
Ensembl chr24:1,122,631...1,125,416
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PSME2
proteasome activator subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr24:1,129,389...1,133,289
Ensembl chr24:1,129,419...1,132,596
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15756444 PMID:16543248 PMID:18197933
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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PTPRT
protein tyrosine phosphatase receptor type T
susceptibility
ISO
DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human)
RGD
PMID:25967969
RGD:150520191
NCBI chr 2:20,613,352...21,720,417
G
RB1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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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 4:37,758,531...37,885,323
Ensembl chr 4:37,762,901...37,873,766
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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 chr 3:5,461,053...5,471,268
Ensembl chr 3:5,462,126...5,468,555
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RUNX2
RUNX family transcription factor 2
ISO
mRNA:increased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr17:26,679,386...26,807,812
Ensembl chr17:26,683,175...26,807,319
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RUNX3
RUNX family transcription factor 3
disease_progression
ISO
mRNA:decreased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307
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SALL4
spalt like transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321
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SETD5
SET domain containing 5
disease_progression
ISO
RGD
PMID:31981592
RGD:155804254
NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217
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SFN
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:105,902,481...105,904,313
Ensembl chr20:105,902,974...105,903,720
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SLC16A10
solute carrier family 16 member 10
ISO
protein:increased expression:esophagus
RGD
PMID:33609949
RGD:151361149
NCBI chr13:62,645,692...62,787,508
Ensembl chr13:62,646,876...62,786,048
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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 chr 6:40,139,417...40,150,312
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SLC39A6
solute carrier family 39 member 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23644492
NCBI chr18:44,681,718...44,702,741
Ensembl chr18:44,681,508...44,702,754
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SLC52A3
solute carrier family 52 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729853
NCBI chr 2:55,744,934...55,760,957
Ensembl chr 2:55,752,837...55,761,120
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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 chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754
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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 chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18167182 PMID:21517111
NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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SOX2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19801978
NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826
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SPEN
spen family transcriptional repressor
ISO
associated with Neoplasm Metastasis; DNA:mutations
RGD
PMID:33363385
RGD:151347445
NCBI chr20:116,359,981...116,458,156
Ensembl chr20:116,361,008...116,458,064
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STIM1
stromal interaction molecule 1
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:31843504
RGD:152995393
NCBI chr 1:62,651,472...62,865,992
Ensembl chr 1:62,651,290...62,865,986
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr23:42,153,576...42,160,903
Ensembl chr23:42,153,026...42,160,907
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TAGLN
transgelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:108,570,342...108,575,789
Ensembl chr 1:108,574,007...108,575,348
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TAP1
transporter 1, ATP binding cassette subfamily B member
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr17:39,252,000...39,260,195
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TAP2
transporter 2, ATP binding cassette subfamily B member
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr17:39,266,870...39,277,658
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TCN2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810
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TERT
telomerase reverse transcriptase
no_association susceptibility
ISO
DNA:SNP: :rs2736098(human) mRNA:increased expression:esophagus squamous epithelium: DNA:SNPs: : rs2853691,rs2736100(human)
RGD
PMID:15112252 PMID:25007268 PMID:26716642
RGD:11572962 RGD:150530488 RGD:152977757
NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
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TET2
tet methylcytosine dioxygenase 2
severity
ISO
mRNA:decreased expression:esophagus squamous epithelium (human) associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) DNA:mutations
RGD
PMID:26093090 PMID:26873401 PMID:27050164
RGD:11528815 RGD:150429656 RGD:150429668
NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942
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TET3
tet methylcytosine dioxygenase 3
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:27050164
RGD:150429668
NCBI chr14:33,170,046...33,293,128
Ensembl chr14:33,176,039...33,293,906
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TGFBR2
transforming growth factor beta receptor 2
ISO
OMIM
NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711
G
TNFAIP3
TNF alpha induced protein 3
severity
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:28197630
RGD:151347617
NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197
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TNFAIP8
TNF alpha induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21969086
NCBI chr23:22,514,427...22,636,888
Ensembl chr23:22,573,208...22,636,936
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TNXB
tenascin XB
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr17:39,919,839...39,988,087
Ensembl chr17:39,919,772...39,986,868
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TP53
tumor protein p53
ISO
DNA:misssense mutation: :p.R72P (rs1042522) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16543248 PMID:25151357 PMID:28789369
RGD:14995932
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
G
TPI1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr11:6,900,762...6,904,188
Ensembl chr11:6,900,787...6,906,787
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TPM1
tropomyosin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135
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TPM2
tropomyosin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr12:44,912,250...44,920,615
Ensembl chr12:44,912,223...44,919,456
G
TXNDC17
thioredoxin domain containing 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr16:6,016,273...6,018,500
G
TYMP
thymidine phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11641616
NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
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USP8
ubiquitin specific peptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35022897
NCBI chr26:32,829,627...32,906,493
Ensembl chr26:32,829,523...32,866,073
G
VENTX
VENT homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
G
WRAP53
WD repeat containing antisense to TP53
disease_progression
ISO
RGD
PMID:24626331
RGD:21081532
NCBI chr16:7,065,531...7,085,590
Ensembl chr16:7,066,333...7,085,625
G
WWOX
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
ClinVar OMIM
PMID:11956080 PMID:28492532
NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157
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XPO1
exportin 1
exacerbates
ISO
mRNA, protein:increased expression:epithelium of esophagus (human) protein:increased expression:esophagus (human)
RGD
PMID:24898882 PMID:25148895
RGD:151667431 RGD:151667436
NCBI chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723
G
XRCC1
X-ray repair cross complementing 1
susceptibility no_association treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs,haplotypes:multiple (human) DNA:missense mutation:cds: p.R399Q (human) DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)
CTD RGD
PMID:11400117 PMID:16639733 PMID:25710005 PMID:27123143 PMID:28356949
RGD:150530501 RGD:150530505 RGD:150530634 RGD:151347444
NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
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ZCCHC12
zinc finger CCHC-type containing 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all