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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:esophageal disease
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Accession:DOID:6050 term browser browse the term
Definition:Pathological processes in the ESOPHAGUS.
Synonyms:exact_synonym: esophageal diseases
 narrow_synonym: esophageal ulcer
 primary_id: MESH:D004935
 alt_id: RDO:0004977
 xref: ICD10CM:K22.9;   ICD9CM:530.9;   NCI:C3027
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
esophageal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19566590 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin susceptibility ISO RGD PMID:16098009, PMID:16098009 RGD:1598514, RGD:1598514 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668
JBrowse link
G Lmna lamin A/C ISS OMIM:200400 MouseDO NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Nos1 nitric oxide synthase 1 ISS OMIM:200400 MouseDO NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:24997987, PMID:11837716 RGD:5147806 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human)
DNA:SNP::rs28688207 (human)
DNA:polymorphism, haplotype
CTD Direct Evidence: marker/mechanism
CTD PMID:24997987, PMID:11837716, PMID:30788115, PMID:30092016 RGD:5147806, RGD:14974238, RGD:14865011 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS OMIM:200400 MouseDO NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 onset ISO DNA:SNP:intron:rs437876 (human) RGD PMID:19309439 RGD:5685626 NCBI chr 8:130,283,453...130,313,431 JBrowse link
Alacrima, Achalasia, and Mental Retardation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar Annotator: match by OMIM:615510
OMIM
ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 NCBI chr 9:82,632,267...82,639,811
Ensembl chr 9:82,632,230...82,639,821
JBrowse link
Barrett's adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO RGD PMID:18059332 RGD:13782259 NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
JBrowse link
Barrett's esophagus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar
PMID:21791690 PMID:25741868 PMID:28492532 NCBI chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893
JBrowse link
G B3gat2 beta-1,3-glucuronyltransferase 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 9:29,984,077...30,068,649
Ensembl chr 9:29,984,077...30,068,649
JBrowse link
G Becn1 beclin 1 disease_progression IEP
ISO
RGD PMID:22301112, PMID:22301112 RGD:11561943, RGD:11561943 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO
IEP
protein:increased expression:esophagus: RGD PMID:17570215, PMID:17570215 RGD:8699511, RGD:8699511 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Cdh13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr19:50,848,793...51,971,618
Ensembl chr19:50,848,736...51,972,103
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cdx2 caudal type homeo box 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr12:9,464,026...9,470,565
Ensembl chr12:9,464,026...9,470,565
JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar
PMID:21791690 NCBI chr 7:77,966,722...77,977,004
Ensembl chr 7:77,966,722...77,977,004
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
JBrowse link
G Fas Fas cell surface death receptor severity ISO RGD PMID:10821489 RGD:12903968 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Foxp1 forkhead box P1 ISO DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gast gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr10:88,245,532...88,248,485
Ensembl chr10:88,245,532...88,248,484
JBrowse link
G Gata6 GATA binding protein 6 disease_progression ISO protein:increased expression: esophagus squamous epithelium (human) RGD PMID:25445407 RGD:13208870 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO associated with Aneuploidy; protein:increased expression:serum: RGD PMID:18006928 RGD:12743582 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G LOC103694540 zinc finger Y-chromosomal protein 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr  Y:182,497...222,212
Ensembl chr  Y:182,690...223,588
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 2:197,786,212...197,788,992 JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:23757351 RGD:21408587 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mki67 marker of proliferation Ki-67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar
PMID:21791690 NCBI chr16:56,817,714...56,900,025
Ensembl chr16:56,813,791...56,900,052
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ptges prostaglandin E synthase IEP mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression IMP
ISO
mRNA: increased expression: Esophagus
CTD Direct Evidence: marker/mechanism
CTD PMID:11059772 PMID:15387324 PMID:17244951, PMID:17675820, PMID:12105834, PMID:23011828 RGD:1642603, RGD:13207438, RGD:7349348 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Rprm reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr 3:39,595,301...39,596,718
Ensembl chr 3:39,595,301...39,596,718
JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr14:23,611,909...23,670,314
Ensembl chr14:23,611,735...23,670,475
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
Deglutition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf10 multiple EGF-like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Deglutition disorder ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Deglutition disorder ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Dysphagia ClinVar NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 4:147,455,506...147,490,869
Ensembl chr 4:147,455,533...147,490,733
JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 1:64,023,924...64,031,756
Ensembl chr 1:64,024,240...64,030,175
Ensembl chr 1:64,024,240...64,030,175
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
JBrowse link
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf10 multiple EGF-like domains 10 ISO ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
ClinVar Annotator: match by OMIM:614399
ClinVar Annotator: match by synonym: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
OMIM
ClinVar
PMID:17236770 PMID:22101682 PMID:22371254 PMID:23453856 PMID:23954233 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26802438 PMID:28492532 PMID:28498977 NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
JBrowse link
eosinophilic esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO RGD PMID:22331014 RGD:6771318 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Ankrd27 ankyrin repeat domain 27 ISO DNA:SNPs:intron: (rs3815700, rs10410895) (human) RGD PMID:25407941 RGD:11100048 NCBI chr 1:91,857,048...91,958,763
Ensembl chr 1:91,857,057...91,958,763
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 treatment ISO protein:increased expression:esophagus (human) RGD PMID:18844613, PMID:24704289 RGD:11081156, RGD:11081157 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:1316818 RGD:6893390 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:plasma RGD PMID:21211656 RGD:5490306 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 treatment ISO DNA:polymorphisms:: RGD PMID:26416193 RGD:11352743 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:23161496 RGD:11354947 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:esophagus (human) RGD PMID:22331014 RGD:6771318 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:24486052 RGD:11073602 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20208534 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
esophageal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp6v0a1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:88,914,264...88,967,736
Ensembl chr10:88,914,276...88,967,748
JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:73,671,516...73,686,344
Ensembl chr 8:73,672,295...73,673,317
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cdc27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:92,551,754...92,602,214
Ensembl chr10:92,554,081...92,602,082
JBrowse link
G Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:49,792,273...50,000,535
Ensembl chr19:49,792,273...50,000,535
JBrowse link
G Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:62,887,267...63,000,307
Ensembl chr 2:62,887,267...62,999,572
JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:37,004,776...37,599,866
Ensembl chr11:37,004,902...37,253,776
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:20740495 RGD:12792229 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hoxc4 homeo box C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr 7:144,646,605...144,652,589
Ensembl chr 7:144,647,587...144,650,129
JBrowse link
G Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:203,768,364...203,855,573
Ensembl chr 2:203,768,117...203,855,573
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Itgb1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:159,253,934...159,287,193
Ensembl chr 4:159,253,934...159,287,193
JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:112,019,897...112,121,980
Ensembl chr  X:112,020,646...112,121,943
JBrowse link
G Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:90,084,607...90,089,693
Ensembl chr10:90,085,559...90,089,693
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Plk2 polo-like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:41,911,143...41,916,901
Ensembl chr 2:41,911,131...41,916,901
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:221,006,305...221,018,820
Ensembl chr 1:221,006,340...221,015,929
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:88,764,732...88,789,060
Ensembl chr10:88,764,732...88,789,057
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tenm2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:20,846,091...21,791,771
Ensembl chr10:20,844,899...21,265,026
JBrowse link
G Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:92,935,474...92,942,267
Ensembl chr 8:92,937,739...92,942,076
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:15,112,663...15,123,825
Ensembl chr  X:15,113,878...15,122,146
JBrowse link
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 PMID:11307153 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17972171 PMID:18042939 PMID:19471317 PMID:19863560 PMID:20104584 PMID:20694749 PMID:20736950 PMID:21120943 PMID:21324516 PMID:23199084 PMID:23318356 PMID:23621881 PMID:24033266 PMID:24055113 PMID:24156927 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26295337 PMID:26467025 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28492532 PMID:28724667 PMID:29339979 PMID:29360161 PMID:29478780 PMID:29907814 PMID:29909963 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Nog noggin ISO
ISS
OMIM:189960 MouseDO PMID:17260385 RGD:12801454 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
esophageal cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: Esophageal cancer, alcohol-related, susceptibility to ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:16046871 PMID:16440063 PMID:17885622 PMID:18056758 PMID:20010786 PMID:33355142 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Esophageal cancer ClinVar PMID:25741868 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Ctnna1 catenin alpha 1 disease_progression IEP RGD PMID:9863006 RGD:2289811 NCBI chr18:27,923,229...28,055,972
Ensembl chr18:27,923,572...28,055,960
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP protein:increased expression:serum RGD PMID:20232121 RGD:5134997 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:11833070, PMID:26782562 RGD:14700950, RGD:11554919 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Dcc DCC netrin 1 receptor ISO OMIM NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:29660336 RGD:21409755 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:11833070, PMID:23749488, PMID:12406553, PMID:26782562 RGD:14700950, RGD:14700969, RGD:14700964, RGD:11554919 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:23749488 RGD:14700969 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased expression:esophagus RGD PMID:20498946 RGD:4145286 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Il5 interleukin 5 treatment IEP RGD PMID:20232121 RGD:5134997 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO esophageal squamous cell carcinoma, OMIM:133239 OMIM PMID:10097140 RGD:1600104 NCBI chr16:22,250,452...22,306,667
Ensembl chr16:22,250,470...22,306,662
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Esophageal cancer ClinVar PMID:28492532 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:29660336 RGD:21409755 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mxi1 MAX interactor 1, dimerization protein IAGP RGD PMID:10849326 RGD:1298988 NCBI chr 1:274,030,748...274,090,071
Ensembl chr 1:274,030,978...274,090,071
JBrowse link
G Rnf6 ring finger protein 6 ISO OMIM NCBI chr12:10,574,168...10,583,196
Ensembl chr12:10,574,168...10,583,208
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Esophagus cancer
ClinVar Annotator: match by term: Esophageal cancer
OMIM
ClinVar
PMID:7664267 PMID:10789724 PMID:15235604 PMID:16928994 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18339844 PMID:21267002 PMID:22113417 PMID:24033266 PMID:25741868 PMID:27879313 PMID:28492532 PMID:28659821 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:8164043 PMID:8825920 PMID:9047394 PMID:11101847 PMID:12007217 PMID:12619118 PMID:12826609 PMID:15607980 PMID:15607981 PMID:15977174 PMID:16401470 PMID:16489069 PMID:17606709 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19881536 PMID:20128691 PMID:20516128 PMID:20689556 PMID:21305319 PMID:21343334 PMID:21761402 PMID:22006311 PMID:22233476 PMID:22698404 PMID:23161690 PMID:23263379 PMID:23792586 PMID:24033266 PMID:24573247 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27153395 PMID:27374712 PMID:27516001 PMID:28349240 PMID:28492532 PMID:30816478 PMID:31775759 PMID:32000721 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Esophageal cancer OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr19:46,761,353...47,695,247 JBrowse link
esophageal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:17972177 PMID:18431501 PMID:18627636 PMID:18779604 PMID:21120943 PMID:21218378 PMID:21523855 PMID:22126563 PMID:22293751 PMID:22486713 PMID:23555315 PMID:24055113 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26689913 PMID:28222693 PMID:28492532 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:25157968 PMID:26619011 PMID:26822237 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Esophageal carcinoma, somatic ClinVar PMID:8187090 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:15623594 PMID:16205628 PMID:16707764 PMID:16863509 PMID:17653080 PMID:19147750 PMID:19536777 PMID:20522446 PMID:22753918 PMID:23102728 PMID:24033266 PMID:25157968 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:26619011 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:16397024 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:26619011 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:26619011 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10797267 PMID:11274206 PMID:11583957 PMID:12116240 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18823382 PMID:20101697 PMID:22316667 PMID:22331366 PMID:25741868 PMID:26572829 PMID:26619011 PMID:26900293 PMID:27595937 PMID:28492532 PMID:32573726 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2826609 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8164043 PMID:8242631 PMID:8336941 PMID:8364550 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9472631 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9667734 PMID:9825943 PMID:9839505 PMID:10229196 PMID:10411893 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12406399 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15982667 PMID:15993273 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18208484 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20195489 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21470402 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22847613 PMID:22862161 PMID:22866089 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22999923 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23538418 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24728327 PMID:24744791 PMID:24810334 PMID:24835218 PMID:24940547 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25587027 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26659639 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27149858 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27489289 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27730344 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28279309 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29416011 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30297838 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31300551 PMID:31775759 PMID:32000721 PMID:32295079 PMID:32401780 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
Esophageal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332314 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 2:243,500,540...243,516,865
Ensembl chr 2:243,502,073...243,516,532
JBrowse link
G Akap13 A-kinase anchoring protein 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 1:137,089,558...137,315,272
Ensembl chr 1:137,014,272...137,315,272
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:8850269 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11406566 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr 5:57,423,735...57,429,252
Ensembl chr 5:57,423,734...57,429,245
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bbc3 Bcl-2 binding component 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16481741 NCBI chr 1:78,261,491...78,267,802 JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2a1 BCL2-related protein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr 8:96,551,424...96,559,527
Ensembl chr 8:96,551,245...96,559,483
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17450141 PMID:21472143 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12235107 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccnh cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Cdh13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr19:50,848,793...51,971,618
Ensembl chr19:50,848,736...51,972,103
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A disease_progression ISO RGD PMID:11903577 RGD:8662379 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A IEP
ISO
Protein:decreased expression:esophagus
CTD Direct Evidence: marker/mechanism
CTD PMID:18410530, PMID:10969811 RGD:1600828 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cryab crystallin, alpha B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7692001 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21509778 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
JBrowse link
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21298351 PMID:21468131 PMID:22042947 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22042947 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:esophageal mucosa: RGD PMID:9605741 RGD:11049151 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO protein:increased expression:esophageal mucosa: RGD PMID:9605741 RGD:11049151 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Gng7 G protein subunit gamma 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18219292 NCBI chr 7:11,565,740...11,629,519
Ensembl chr 7:11,582,984...11,628,929
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:15526353 RGD:5490562 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Lgals3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17634542 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:22,250,452...22,306,667
Ensembl chr16:22,250,470...22,306,662
JBrowse link
G Macir macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:111,327,333...111,347,428
Ensembl chr 9:111,327,402...111,347,430
JBrowse link
G Map3k3 mitogen activated protein kinase kinase kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr10:94,280,703...94,349,372
Ensembl chr10:94,280,703...94,349,368
JBrowse link
G Marchf8 membrane associated ring-CH-type finger 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 4:148,285,467...148,398,148
Ensembl chr 4:148,286,853...148,398,148
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22042947 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Mir200c microRNA 200c ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr 4:157,236,786...157,236,854 JBrowse link
G Mir21 microRNA 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21248297 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir98 microRNA 98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270317 NCBI chr  X:21,583,875...21,583,982
Ensembl chr  X:21,583,875...21,583,982
JBrowse link
G Mlh3 mutL homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16981255 NCBI chr 6:109,059,386...109,095,876
Ensembl chr 6:109,059,341...109,095,557
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22844359 RGD:7207890 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264214 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Phb prohibitin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr10:83,476,107...83,488,878
Ensembl chr10:83,476,107...83,488,878
JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr19:26,084,816...26,090,095
Ensembl chr19:26,084,903...26,090,094
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189197 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO
IEP
DNA:SNPs: :-1195A > G, -765G > C (human)
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:Esophagus
CTD PMID:11059772 PMID:16322294 PMID:17707579, PMID:16083713, PMID:22165968 RGD:5135528, RGD:5687745 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rnf6 ring finger protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:10,574,168...10,583,196
Ensembl chr12:10,574,168...10,583,208
JBrowse link
G Rprm reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr 3:39,595,301...39,596,718
Ensembl chr 3:39,595,301...39,596,718
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18058463 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Serpinb3 serpin family B member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr13:27,186,701...27,193,211
Ensembl chr13:27,187,130...27,192,592
JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:151,823,422...151,824,937
Ensembl chr 5:151,823,887...151,824,633
JBrowse link
G Slc30a7 solute carrier family 30 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 2:218,888,431...218,951,030
Ensembl chr 2:218,888,431...218,951,030
JBrowse link
G Smyd2 SET and MYND domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25825497 NCBI chr13:108,642,156...108,686,293
Ensembl chr13:108,642,156...108,686,290
JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr11:90,404,421...90,406,730
Ensembl chr11:90,403,333...90,406,797
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11053990 PMID:15986332 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789724 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17068819 NCBI chr 3:154,597,165...154,627,257
Ensembl chr 3:154,597,168...154,627,257
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472143 NCBI chr15:51,433,853...51,464,215 JBrowse link
G Tp53 tumor protein p53 ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:increased expression:esophageal mucosa:
CTD PMID:12706858 PMID:17634542 PMID:26192916, PMID:16778087, PMID:26439224 RGD:8547873, RGD:11075085 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tpm1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr16:19,385,810...19,399,851
Ensembl chr16:19,385,736...19,399,903
JBrowse link
G Trmt11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:29,432,109...29,576,079
Ensembl chr 1:29,432,152...29,487,473
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15930319 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr 7:63,094,955...63,165,158
Ensembl chr 7:63,094,911...63,165,159
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:46,761,353...47,695,247 JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:17611394 NCBI chr  X:128,409,425...128,455,786
Ensembl chr  X:128,409,472...128,453,000
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21347786 NCBI chr 6:136,366,917...136,380,751
Ensembl chr 6:136,371,555...136,379,348
JBrowse link
Esophageal Stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11121210 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
esophageal varix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO associated with ascites RGD PMID:8664482 RGD:1601159 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:1385068 NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
JBrowse link
esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:esophagus: RGD PMID:17570215 RGD:8699511 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:20543112 RGD:4145528 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human) RGD PMID:20811626 RGD:5131286 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Pga5 pepsinogen A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12928072 NCBI chr 1:226,722,198...226,732,736
Ensembl chr 1:226,722,198...226,732,736
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO associated with carcinoma, non-small-cell lung; RGD PMID:20811626 RGD:5131286 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11121210 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) RGD PMID:20811626 RGD:5131286 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16091555 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
esophagus adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Barx1 BARX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr17:14,824,721...14,828,196
Ensembl chr17:14,824,734...14,828,329
JBrowse link
G Becn1 beclin 1 IEP RGD PMID:22301112 RGD:11561943 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Cdc5l cell division cycle 5-like disease_progression ISO protein:increased expression:esophageal mucosa (human) RGD PMID:15725809 RGD:10047052 NCBI chr 9:17,949,764...17,988,514
Ensembl chr 9:17,949,764...17,988,509
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Crtc1 CREB regulated transcription coactivator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr16:20,740,746...20,798,145
Ensembl chr16:20,740,826...20,794,039
JBrowse link
G Ctsb cathepsin B ISO RGD PMID:9770500 RGD:734853 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Dock2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr10:19,181,512...19,603,171 JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr17:46,352,102...46,888,788
Ensembl chr17:46,353,330...46,794,845
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human) RGD PMID:18478337 RGD:13207314 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Fas Fas cell surface death receptor ISO associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human) RGD PMID:10340890 RGD:8662425 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism
DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)
CTD PMID:24121790, PMID:26383589 RGD:11535321 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:17064856 RGD:12792242 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion:: (human) RGD PMID:17064856 RGD:12792242 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Mir21 microRNA 21 disease_progression ISO RGD PMID:26481465 RGD:41404702 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mmp1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO DNA:insertion:promoter:g.-1613insA rs3025058 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:esophagus RGD PMID:25562781 RGD:13204790 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nell1 neural EGFL like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452981 NCBI chr 1:105,348,577...106,218,970
Ensembl chr 1:105,349,069...106,218,958
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP mRNA,protein:increased expression:Esophagus RGD PMID:22165968 RGD:5687745 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
protein: increased expression: esophagus
CTD PMID:12507933, PMID:12055587 RGD:13207437 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 PMID:24952744 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Sod2 superoxide dismutase 2 IDA RGD PMID:17785574 RGD:2317403 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spart spartin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 2:144,522,382...144,548,968
Ensembl chr 2:144,522,072...144,548,917
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Vdr vitamin D receptor susceptibility
disease_progression
ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
DNA:amplication: :
RGD PMID:25910066, PMID:24951052 RGD:11055189, RGD:13432070 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
esophagus small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 IEP protein:increased expression:esophagus RGD PMID:16140947 RGD:1600174 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
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 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
JBrowse link
G Ajuba ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:33,208,210...33,218,456
Ensembl chr15:33,208,216...33,218,456
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr10:56,205,622...56,211,879
Ensembl chr10:56,205,625...56,211,891
JBrowse link
G Azin1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr 7:77,345,646...77,372,398
Ensembl chr 7:77,345,646...77,372,398
JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Blvrb biliverdin reductase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:84,256,063...84,273,726
Ensembl chr 1:84,256,159...84,274,075
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
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 2:207,305,748...207,350,812
Ensembl chr 2:207,305,752...207,350,812
JBrowse link
G Car1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:88,185,204...88,227,486
Ensembl chr 2:88,217,188...88,227,479
JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
G Cbx8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr10:108,148,073...108,150,511
Ensembl chr10:108,148,073...108,150,511
JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr20:3,730,968...3,745,721
Ensembl chr20:3,730,955...3,740,009
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
JBrowse link
G Cfl1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:5,040,314...5,049,166
Ensembl chr20:5,040,337...5,049,166
JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr 8:59,344,097...59,352,135
Ensembl chr 8:59,344,083...59,352,132
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 4:116,261,796...116,278,615
Ensembl chr 4:116,261,796...116,278,615
JBrowse link
G Dcc DCC netrin 1 receptor ISO DNA:deletions:multiple (human) RGD PMID:8187090 RGD:734879 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Dido1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 3:176,162,886...176,216,868
Ensembl chr 3:176,162,886...176,197,753
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
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
PMID:21947696 PMID:23485129 PMID:25157968, PMID:10385363 RGD:5131486 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Fanca FA complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fat2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:40,583,025...40,682,598
Ensembl chr10:40,584,403...40,657,861
JBrowse link
G Fat3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:14,417,039...15,011,596
Ensembl chr 8:14,417,584...14,880,644
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
JBrowse link
G Glo1 glyoxalase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17173682, PMID:25432134, PMID:17916905 RGD:14700948, RGD:14700982 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28914995 NCBI chr  X:80,134,557...80,142,902
Ensembl chr  X:80,134,557...80,142,902
JBrowse link
G Hoxb7 homeo box B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr10:84,135,224...84,138,642
Ensembl chr10:84,135,116...84,138,637
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Kat2b lysine acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr 9:4,440,982...4,492,949 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 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G Kdm5b lysine demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr13:51,384,371...51,455,392
Ensembl chr13:51,384,389...51,455,357
JBrowse link
G Kdm6a lysine demethylase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25151357, PMID:25151357 RGD:9588233 NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25151357, PMID:25151357 RGD:9588233 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Krt13 keratin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:88,032,130...88,036,040
Ensembl chr10:88,032,130...88,036,040
JBrowse link
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt16 keratin 16 IEP RGD PMID:8950218 RGD:633113 NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:88,055,843...88,060,560
Ensembl chr10:88,055,841...88,060,561
JBrowse link
G LOC100361016 oocyte specific homeobox 5-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:93,064,417...93,067,181
Ensembl chr  X:93,064,686...93,065,675
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr15:51,276,022...51,365,238
Ensembl chr15:51,303,909...51,365,234
JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:10097140 NCBI chr16:22,250,452...22,306,667
Ensembl chr16:22,250,470...22,306,662
JBrowse link
G Mad2l1 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 4:97,530,993...97,543,179
Ensembl chr 4:97,531,083...97,537,086
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 4:147,744,673...147,756,462
Ensembl chr 4:147,746,186...147,756,294
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25520135 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir217 microRNA 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr14:113,119,529...113,119,633
Ensembl chr14:113,119,529...113,119,633
JBrowse link
G Mir423 microRNA 423 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr10:63,098,366...63,098,444
Ensembl chr10:63,098,360...63,098,453
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 disease_progression ISO RGD PMID:19492245 RGD:6482249 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Psme1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:34,256,071...34,258,947
Ensembl chr15:34,256,071...34,258,947
JBrowse link
G Psme2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:34,265,552...34,269,851
Ensembl chr15:34,265,557...34,269,851
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rnf6 ring finger protein 6 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:12154016 NCBI chr12:10,574,168...10,583,196
Ensembl chr12:10,574,168...10,583,208
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
G Serpinb3 serpin family B member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr13:27,186,701...27,193,211
Ensembl chr13:27,187,130...27,192,592
JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:151,823,422...151,824,937
Ensembl chr 5:151,823,887...151,824,633
JBrowse link
G Slc39a6 solute carrier family 39 member 6 ISO CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr18:16,523,450...16,543,992
Ensembl chr18:16,522,982...16,543,992
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
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 1:198,100,586...198,104,106
Ensembl chr 1:198,100,586...198,104,109
JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:50,222,895...50,228,369
Ensembl chr 8:50,222,896...50,231,357
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tnfaip8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr18:44,664,310...44,779,914
Ensembl chr18:44,716,226...44,779,914
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 PMID:16543248 PMID:25151357, PMID:28789369 RGD:14995932 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
G Tpm1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Tpm2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:58,776,792...58,779,764
Ensembl chr10:58,776,792...58,779,764
JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11641616 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
G Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked ISO DNA:mutations:multiple (human) RGD PMID:25151357 RGD:9588233 NCBI chr  Y:1,065,274...1,206,127
Ensembl chr  Y:989,240...1,206,096
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 disease_progression ISO RGD PMID:24626331 RGD:21081532 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
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
PMID:11956080 PMID:25526675, PMID:11956080 RGD:1599874 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:122,808,581...122,811,790
Ensembl chr  X:122,808,605...122,811,789
JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19852433 PMID:21532573 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Feingold syndrome 1 ClinVar
OMIM
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 PMID:25741868 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
gastroesophageal reflux disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552517 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:esophagus (human) RGD PMID:17900656 RGD:11081162 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:19672667 RGD:6482726 NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21451212 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616304 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:sputum, macrophage RGD PMID:21426732 RGD:7240539 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tp63 tumor protein p63 ISS OMIM:109350 MouseDO NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Acid reflux ClinVar PMID:25741868 NCBI chr19:54,843,864...55,083,935 JBrowse link
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia ClinVar
OMIM
PMID:24581742 PMID:25741868 PMID:26777256 NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
JBrowse link
Mungan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Mungan syndrome OMIM
ClinVar
PMID:14638363 PMID:25575569 PMID:25741868 NCBI chr 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
JBrowse link
palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhbdf2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER
ClinVar Annotator: match by OMIM:148500
OMIM
ClinVar
PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:28492532 NCBI chr10:105,573,759...105,600,885
Ensembl chr10:105,573,752...105,600,913
JBrowse link
peptic esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 IEP protein:increased expression:esophagus: RGD PMID:17570215 RGD:8699511 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP associated with Asthma;mRNA:increased expression:esophagus RGD PMID:18222984 RGD:2307110 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cldn3 claudin 3 IEP protein:altered expression:epithelial cell, esophagus: RGD PMID:21373849 RGD:11344880 NCBI chr12:21,831,341...21,832,813
Ensembl chr12:21,831,342...21,832,813
JBrowse link
G Cldn4 claudin 4 IEP protein:altered localization:esophagus epithelium, cytoplasm RGD PMID:16143882 RGD:2317602 NCBI chr12:24,761,210...24,763,008
Ensembl chr12:24,761,210...24,763,005
JBrowse link
G Egfr epidermal growth factor receptor IEP mRNA, protein:increased expression:esophagus, basal cell RGD PMID:11966524 RGD:10395244 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G F11r F11 receptor treatment IEP RGD PMID:19478094 RGD:7488941 NCBI chr13:89,826,272...89,850,151
Ensembl chr13:89,826,254...89,850,612
JBrowse link
G Il13 interleukin 13 IEP associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid RGD PMID:18222984 RGD:2307110 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il5 interleukin 5 IEP associated with asthma; mRNA:increased expression:esophagus RGD PMID:18222984 RGD:2307110 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Mir223 microRNA 223 IEP RNA:increased expression: esophagus RGD PMID:28757556 RGD:25824949 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mir29a microRNA 29a IEP RGD PMID:28757556 RGD:25824949 NCBI chr 4:58,343,931...58,344,018 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 IEP protein:decreased expression:esophageal epithelium (rat) RGD PMID:23942904 RGD:9854630 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptges prostaglandin E synthase IEP protein:increased expression:esophagus RGD PMID:16210398 RGD:2300085 NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
JBrowse link
G Tjp1 tight junction protein 1 IEP RGD PMID:19653339 RGD:2325133 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
JBrowse link
G Tnf tumor necrosis factor IDA RGD PMID:15942680 RGD:1580209 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Microphthalmia syndromic 3
ClinVar Annotator: match by OMIM:206900
OMIM
ClinVar
PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 PMID:16145681 PMID:16283891 PMID:16470798 PMID:16543359 PMID:16892407 PMID:16932809 PMID:17219395 PMID:17522144 PMID:18285410 PMID:18385377 PMID:18831064 PMID:19254784 PMID:19921648 PMID:20803647 PMID:21326281 PMID:22171155 PMID:23701296 PMID:24804704 PMID:25542770 PMID:25741868 PMID:26250054 PMID:27206652 PMID:28492532 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
Tracheoesophageal Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Amer3 APC membrane recruitment protein 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:41,089,417...41,101,108
Ensembl chr 9:41,096,835...41,099,189
JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr15:33,759,108...33,767,017
Ensembl chr15:33,759,001...33,766,438
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 7:12,258,468...12,280,459
Ensembl chr 7:12,258,468...12,275,609
JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:16818050 RGD:2289003 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 PMID:11307153 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17972171 PMID:18042939 PMID:19471317 PMID:19863560 PMID:20104584 PMID:20694749 PMID:20736950 PMID:21120943 PMID:21324516 PMID:23199084 PMID:23318356 PMID:23621881 PMID:24033266 PMID:24055113 PMID:24156927 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26295337 PMID:26467025 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28492532 PMID:28724667 PMID:29339979 PMID:29360161 PMID:29478780 PMID:29907814 PMID:29909963 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat) RGD PMID:15065023 RGD:12801427 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
JBrowse link
G Gtf3c1 general transcription factor IIIC subunit 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:197,032,473...197,098,676
Ensembl chr 1:197,032,474...197,098,649
JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:31,943,119...32,069,249
Ensembl chr11:31,893,489...32,069,249
JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:173,654,238...173,659,706
Ensembl chr 5:173,654,860...173,659,675
JBrowse link
G Lurap1l leucine rich adaptor protein 1-like ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:98,468,039...98,515,126
Ensembl chr 5:98,469,047...98,515,125
JBrowse link
G Pcdh1 protocadherin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr18:31,330,081...31,343,147
Ensembl chr18:31,328,919...31,343,797
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 4:173,732,196...174,102,502
Ensembl chr 4:173,732,248...174,102,496
JBrowse link
G Polr2b RNA polymerase II subunit B ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:33,070,104...33,107,792
Ensembl chr14:33,070,078...33,107,776
JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:108,689,916...108,841,593
Ensembl chr13:108,696,336...108,841,511
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Tecpr1 tectonin beta-propeller repeat containing 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr12:12,374,132...12,403,382
Ensembl chr12:12,374,790...12,402,552
JBrowse link
G Tlr9 toll-like receptor 9 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:9,169,409...9,384,835
Ensembl chr14:9,141,512...9,381,870
JBrowse link
triple-A syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Achalasia alacrima syndrome
ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome
ClinVar Annotator: match by term: HYPOADRENALISM WITH ACHALASIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:231550
ClinVar Annotator: match by synonym: Achalasia-alacrima syndrome
OMIM
ClinVar
CTD
PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 PMID:12752575 PMID:15173230 PMID:15666842 PMID:16609705 PMID:17853339 PMID:18261130 PMID:18414213 PMID:18615337 PMID:18628786 PMID:22538409 PMID:23315990 PMID:25741868 PMID:26595337 PMID:27133709 PMID:27414811 PMID:28492532 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668
JBrowse link
G Myg1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome ClinVar NCBI chr 7:143,929,662...143,936,865
Ensembl chr 7:143,929,662...143,936,864
JBrowse link
VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane2 ciliogenesis and planar polarity effector 2 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:159,735,008...159,735,956
Ensembl chr 5:159,734,838...159,742,774
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25754594 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19006232 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:p.C470R(mouse)
CTD PMID:18519639, PMID:18519639 RGD:11556208 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:73,423,396...73,460,890
Ensembl chr13:73,423,397...73,460,935
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 6:75,793,223...75,873,854
Ensembl chr 6:75,793,960...75,874,235
JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11748304 PMID:14518070 PMID:17392703 PMID:17942903 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:27477328 PMID:27535533 PMID:27959697 PMID:28492532 PMID:28526761 PMID:30287823 PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar Annotator: match by OMIM:314390
OMIM
ClinVar
PMID:2629409 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      gastrointestinal system disease 4690
        esophageal disease 352
          Barrett's esophagus + 33
          Deglutition Disorders + 29
          Esophageal Cyst 0
          Esophageal Fistula + 46
          Esophageal Neoplasms + 214
          Esophageal Perforation + 0
          Esophageal Stenosis 1
          dyskinesia of esophagus + 20
          esophageal atresia + 38
          esophageal candidiasis 0
          esophageal diverticulosis 0
          esophageal leukoplakia 0
          esophageal tuberculosis 0
          esophageal varix 2
          esophagitis + 29
          megaesophagus 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      gastrointestinal system disease 4690
        Gastrointestinal Diseases 2622
          esophageal disease 352
            Barrett's esophagus + 33
            Deglutition Disorders + 29
            Esophageal Cyst 0
            Esophageal Fistula + 46
            Esophageal Neoplasms + 214
            Esophageal Perforation + 0
            Esophageal Stenosis 1
            dyskinesia of esophagus + 20
            esophageal atresia + 38
            esophageal candidiasis 0
            esophageal diverticulosis 0
            esophageal leukoplakia 0
            esophageal tuberculosis 0
            esophageal varix 2
            esophagitis + 29
            megaesophagus 0
paths to the root