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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
 narrow_synonym: Esophageal squamous cell carcinoma, somatic
 related_synonym: ESCC, SUSCEPTIBILITY TO;   squamous cell carcinoma of esophagus
 primary_id: MESH:D000077277
 xref: 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 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
JBrowse link
G Ajuba ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
JBrowse link
G Azin1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Blvrb biliverdin reductase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:21165554 RGD:126781701 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr16:18,217,404...18,220,979
Ensembl chr16:18,217,407...18,220,979
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Capza1 capping actin protein of muscle Z-line subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480
JBrowse link
G Car1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208
JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
JBrowse link
G Cbx8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024
JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
JBrowse link
G Cfl1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 IEP protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
JBrowse link
G Dcc DCC netrin 1 receptor ISO DNA:deletions:multiple (human) RGD PMID:8187090 RGD:734879 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
JBrowse link
G Dido1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Egfr epidermal growth factor receptor severity ISO protein:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma
CTD
ClinVar
RGD
PMID:21947696 PMID:23485129 PMID:25157968 PMID:10385363 RGD:5131486 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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 chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 susceptibility
disease_progression
ISO DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
protein:altered localization:nucleus
RGD PMID:24916311 PMID:18000820 RGD:126781764, RGD:126781765 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO RGD PMID:25613619 PMID:21165554 RGD:126781697, RGD:126781701 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Fanca FA complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Fat2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216
JBrowse link
G Fat3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366
JBrowse link
G Glo1 glyoxalase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
JBrowse link
G Gstm1 glutathione S-transferase mu 1 no_association ISO RGD PMID:11860825 PMID:17916905 PMID:25432134 RGD:14700943, RGD:14700982, RGD:14700948 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17173682 PMID:25432134 PMID:17916905 RGD:14700948, RGD:14700982 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:5,973,062...5,978,565 JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28914995 NCBI chr  X:74,085,871...74,094,488 JBrowse link
G Hoxb7 homeo box B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr10:81,252,616...81,256,034
Ensembl chr10:81,252,553...81,256,034
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 severity ISO human cells in mouse model RGD PMID:32367071 RGD:149735568 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Jak2 Janus kinase 2 severity ISO protein:increased phosphorylation:esophagus squamous epithelium (human) RGD PMID:32158193 RGD:127285669 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kat2b lysine acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr 9:6,562,525...6,667,064 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:24224128 PMID:15805246 RGD:9587746, RGD:9587752 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
JBrowse link
G Kdm5b lysine demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
JBrowse link
G Kdm6a lysine demethylase 6A ameliorates ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus (human)
CTD
RGD
PMID:25151357 PMID:29351209 PMID:31804468 RGD:150429739, RGD:150429742 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25151357 PMID:25151357 RGD:9588233 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25151357 PMID:25151357 RGD:9588233 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Krt13 keratin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:85,052,122...85,056,032
Ensembl chr10:85,051,889...85,056,084
JBrowse link
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt16 keratin 16 IEP RGD PMID:8950218 RGD:633113 NCBI chr10:85,168,357...85,171,744 JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:85,075,835...85,080,552 JBrowse link
G LOC100361016 oocyte specific homeobox 5-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:86,483,893...86,484,900
Ensembl chr  X:86,483,893...86,484,954
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:10097140 NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203
JBrowse link
G Mad2l1 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 4:95,906,692...95,918,885
Ensembl chr 4:95,906,817...95,913,470
JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase susceptibility ISO DNA:snp:cds:p.E346K (rs140693) (human)
DNA:snp:intron:IVS5-140A>G (rs3138355) (human)
RGD PMID:15205355 PMID:25162968 RGD:9588976, RGD:9588980 NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD
RGD
PMID:25520135 PMID:21674174 RGD:126790574 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mir217 microRNA 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr14:102,531,505...102,531,609
Ensembl chr14:102,531,505...102,531,609
JBrowse link
G Mir423 microRNA 423 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
JBrowse link
G Mlh1 mutL homolog 1 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus RGD PMID:21674174 RGD:126790574 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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:22265839 PMID:21674174 PMID:24366688 RGD:126790560, RGD:126790574, RGD:126790573 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr19:10,826,032...10,827,048 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 disease_progression ISO RGD PMID:19492245 RGD:6482249 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Psme1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
JBrowse link
G Psme2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rnf6 ring finger protein 6 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:12154016 NCBI chr12:8,816,777...8,826,870
Ensembl chr12:8,816,833...8,826,847
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO DNA:SNP: :rs2014300 (human) RGD PMID:30666517 RGD:126775149 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO mRNA:increased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G Runx3 RUNX family transcription factor 3 disease_progression ISO mRNA:decreased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
JBrowse link
G Serpinb3 serpin family B member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr13:23,274,120...23,280,082
Ensembl chr13:23,274,484...23,313,682
JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 Ensembl chr 5:145,826,201...145,831,314 JBrowse link
G Slc39a6 solute carrier family 39 member 6 ISO CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr18:15,864,874...15,885,417
Ensembl chr18:15,864,875...15,885,417
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr 2:117,536,929...117,539,338
Ensembl chr 2:117,536,929...117,539,338
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO DNA:SNP:exon:p.R213H, 638G>A (human) RGD PMID:12455060 RGD:1581448 NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562
JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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:27050164 PMID:26873401 RGD:11528815, RGD:150429668, RGD:150429656 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:27050164 RGD:150429668 NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
JBrowse link
G Tnfaip8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr18:43,183,854...43,299,517
Ensembl chr18:43,183,916...43,299,517
JBrowse link
G Tnxb tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198
G Tp53 tumor protein p53 ISO DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16543248 PMID:25151357 PMID:28789369 RGD:14995932 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
JBrowse link
G Tpm1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
JBrowse link
G Tpm2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:56,832,749...56,835,721 JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11641616 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
G Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked ISO DNA:mutations:multiple (human) RGD PMID:25151357 RGD:9588233 NCBI chr  Y:942,838...1,105,313
Ensembl chr  Y:924,168...1,103,422
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 disease_progression ISO RGD PMID:24626331 RGD:21081532 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO esophageal squamous cell carcinoma, OMIM:133239
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
CTD
ClinVar
RGD
PMID:11956080 PMID:25526675 PMID:11956080 RGD:1599874 NCBI chr19:42,432,141...43,360,278 JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:115,433,259...115,436,692
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of cellular proliferation 7045
      cancer 5000
        cell type cancer 3406
          carcinoma 2925
            squamous cell carcinoma 509
              esophagus squamous cell carcinoma 133
                esophageal basaloid squamous cell carcinoma 0
                esophagus verrucous carcinoma 0
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      gastrointestinal system disease 6069
        Gastrointestinal Diseases 4154
          Gastrointestinal Neoplasms 3316
            Esophageal Neoplasms 231
              esophageal cancer 186
                esophageal carcinoma 174
                  esophagus squamous cell carcinoma 133
                    esophageal basaloid squamous cell carcinoma 0
                    esophagus verrucous carcinoma 0
paths to the root