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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:esophagus squamous cell carcinoma
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Accession:DOID:3748 term browser 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.


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esophagus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21206495 NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr18:60,259,479...60,267,302 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G ATM ATM serine/threonine kinase disease_progression ISO Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) RGD PMID:17019709 RGD:150340713 NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:21165554 RGD:126781701 NCBI chr 9:22,095,592...22,104,894 JBrowse link
G 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
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr16:63,162,827...63,243,928 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CALR calreticulin ameliorates ISO CTD Direct Evidence: marker/mechanism
human cells in a mouse model
CTD
RGD
PMID:19684620 PMID:21517111 PMID:23814025 RGD:150521679 RGD:150521703 NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CFL1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:8,408,560...8,410,564 JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit susceptibility ISO DNA:SNP: :rs667282(human)
mRNA:increased expression:esophagus (human)
RGD PMID:23844051 PMID:27610024 RGD:150524358 RGD:151361143 NCBI chr26:4,747,734...4,779,231
Ensembl chr26:4,749,766...4,776,822
JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit exacerbates
disease_progression
ISO mRNA:increased expression:esophagus (human) RGD PMID:27610024 PMID:33603170 RGD:151361143 RGD:151667905 NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:87,551,341...87,555,145 JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma ClinVar PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO mRNA:increased expression:esophagus (human) RGD PMID:31423201 RGD:150520019 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 disease_progression ISO protein:increased expression:esophagus squamous epithelium (human) RGD PMID:17171785 RGD:152023646 NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility ISO DNA:SNP:CDS: (rs2296241) (human) RGD PMID:28362172 RGD:151665500 NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G DCC DCC netrin 1 receptor ISO OMIM NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G EFNB2 ephrin B2 severity
exacerbates
ameliorates
ISO mRNA:increased expression:esophagus squamous epithelium (human)
mRNA,protein:increased expression:esophagus squamous epithelium (human)
human cells in mouse model
RGD PMID:17611172 PMID: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
JBrowse link
G EGFR epidermal growth factor receptor severity ISO protein:increased expression:esophagus (human)
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
RGD
ClinVar
PMID:10385363 PMID:23485129 PMID:25157968 RGD:5131486 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239
JBrowse link
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 chr12:380,041...545,333
Ensembl chr12:379,943...497,033
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression
susceptibility
ISO protein:altered localization:nucleus
DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
RGD PMID:18000820 PMID:24916311 RGD:126781764 RGD:126781765 NCBI chr10:97,099,090...98,281,697 JBrowse link
G 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
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO RGD PMID:21165554 PMID:25613619 RGD:126781697 RGD:126781701 NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G FKBP1A FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:55,170,816...55,195,380 JBrowse link
G FOXA1 forkhead box A1 onset ISO DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human) RGD PMID:27050876 PMID:29788741 RGD:151665743 RGD:151665759 NCBI chr24:14,397,759...14,403,078
Ensembl chr24:14,396,702...14,403,094
JBrowse link
G FUBP1 far upstream element binding protein 1 exacerbates ISO protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus (human)
RGD PMID:26490982 PMID:32481602 RGD:151361192 RGD:151361197 NCBI chr20:55,194,681...55,233,666
Ensembl chr20:55,194,743...55,230,277
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G GRB7 growth factor receptor bound protein 7 exacerbates ISO protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus mucosa (human)
RGD PMID:10797316 PMID:26465158 RGD:151347654 RGD:151347661 NCBI chr16:66,416,978...66,427,035
Ensembl chr16:66,416,904...66,426,300
JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:97,305,094...97,317,892 JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G HMGB1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:9,353,333...9,357,765 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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 chr 9:115,197,543...115,250,092
Ensembl chr 9:115,197,566...115,253,919
JBrowse link
G 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
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit exacerbates ISO protein:increased expression:esophagus (human) RGD PMID:19758438 PMID:30227324 RGD:151347669 RGD:151347672 NCBI chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450
JBrowse link
G 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
JBrowse link
G KDM4C lysine demethylase 4C severity
susceptibility
ISO protein:increased expression:esophageal epithelium, nucleus (human)
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
RGD PMID:15805246 PMID:24224128 RGD:9587746 RGD:9587752 NCBI chr12:72,346,194...72,763,040
Ensembl chr12:72,347,071...72,761,666
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G KMT2D lysine methyltransferase 2D ISO DNA:mutations:multiple (human)
mRNA:increased expression:esophagus
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:25151357 PMID:29532228 RGD:150521712 RGD:9588233 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423
JBrowse link
G KRT13 keratin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr16:64,735,285...64,740,791 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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 JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 sexual_dimorphism ISO DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) RGD PMID:32753933 RGD:150573717 NCBI chr 4:53,040,731...53,120,784
Ensembl chr 4:53,084,023...53,120,772
JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility ISO DNA:snp:intron:IVS5-140A>G (rs3138355) (human)
DNA:snp:cds:p.E346K (rs140693) (human)
RGD PMID:15205355 PMID:25162968 RGD:9588976 RGD:9588980 NCBI chr22:51,616,840...51,626,232
Ensembl chr22:51,616,803...51,626,224
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G MSH2 mutS homolog 2 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus
DNA, protein:hypermethylation, decreased expression:esophagus
RGD PMID:21674174 PMID:22265839 PMID:24366688 RGD:126790560 RGD:126790573 RGD:126790574 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G PTPRT protein tyrosine phosphatase receptor type T susceptibility ISO DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) RGD PMID:25967969 RGD:150520191 NCBI chr 2:20,613,352...21,720,417 JBrowse link
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
JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 severity
disease_progression
ISO protein:increased expression:esophagus (human)
human cells in mouse model
RGD PMID:28132115 PMID:30119206 PMID:32642408 RGD:152995460 RGD:152995470 RGD:152995512 NCBI chr 4:37,758,531...37,885,323
Ensembl chr 4:37,762,901...37,873,766
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G SLC1A5 solute carrier family 1 member 5 disease_progression ISO protein:increased expression:esophagus RGD PMID:26936531 PMID:33609949 RGD:11532833 RGD:151361149 NCBI chr 6:40,139,417...40,150,312 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO protein:increased expression:esophagus RGD PMID:26936531 PMID:31726270 PMID:33609949 RGD:11532833 RGD:151361144 RGD:151361149 NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 severity
treatment
ISO mRNA:decreased expression:esophagus RGD PMID:21385099 PMID:28233302 PMID:31728180 RGD:150573691 RGD:150573812 RGD:150573815 NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G TERT telomerase reverse transcriptase no_association
susceptibility
ISO DNA:SNP: :rs2736098(human)
mRNA:increased expression:esophagus squamous epithelium:
DNA:SNPs: : rs2853691,rs2736100(human)
RGD PMID:15112252 PMID:25007268 PMID:26716642 RGD:11572962 RGD:150530488 RGD:152977757 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity ISO mRNA,protein:increased expression:esophagus squamous epithelium (human) RGD PMID:28197630 RGD:151347617 NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G TP53 tumor protein p53 ISO DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16543248 PMID:25151357 PMID:28789369 RGD:14995932 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G TXNDC17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr16:6,016,273...6,018,500 JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar
OMIM
PMID:11956080 PMID:28492532 NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157
JBrowse link
G XPO1 exportin 1 exacerbates ISO mRNA, protein:increased expression:epithelium of esophagus (human)
protein:increased expression:esophagus (human)
RGD PMID:24898882 PMID:25148895 RGD:151667431 RGD:151667436 NCBI chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
no_association
treatment
ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs,haplotypes:multiple (human)
DNA:missense mutation:cds: p.R399Q (human)
DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)
CTD
RGD
PMID:11400117 PMID:16639733 PMID:25710005 PMID:27123143 PMID:28356949 RGD:150530501 RGD:150530505 RGD:150530634 RGD:151347444 NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
JBrowse link
G ZCCHC12 zinc finger CCHC-type containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    disease of cellular proliferation 7115
      Neoplasms by Histologic Type 4961
        cell type cancer 3540
          carcinoma 2990
            squamous cell carcinoma 606
              esophagus squamous cell carcinoma 175
                esophageal basaloid squamous cell carcinoma 0
                esophagus verrucous carcinoma 0
Path 2
Term Annotations click to browse term
  disease 15273
    disease of anatomical entity 14893
      gastrointestinal system disease 6368
        Digestive System Neoplasms 3608
          Gastrointestinal Neoplasms 3490
            gastrointestinal system cancer 2744
              esophageal cancer 232
                esophageal carcinoma 217
                  esophagus squamous cell carcinoma 175
                    esophageal basaloid squamous cell carcinoma 0
                    esophagus verrucous carcinoma 0
paths to the root