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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Ang
angiogenin
ISO
RGD
PMID:22331014
RGD:6771318
NCBI chr15:28,022,926...28,028,636
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Dcc
DCC netrin 1 receptor
ISO
OMIM
NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
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
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
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
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
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
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
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
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
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
G
Rnf6
ring finger protein 6
ISO
OMIM
NCBI chr12:10,574,168...10,583,196
Ensembl chr12:10,574,168...10,583,208
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Bbc3
Bcl-2 binding component 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16481741
NCBI chr 1:78,261,491...78,267,802
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Mir200c
microRNA 200c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21248297
NCBI chr 4:157,236,786...157,236,854
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Tnfrsf10b
TNF receptor superfamily member 10b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chr15:51,433,853...51,464,215
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
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
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
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
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
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
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
G
Wwox
WW domain-containing oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr19:46,761,353...47,695,247
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Dock2
dedicator of cytokinesis 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chr10:19,181,512...19,603,171
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Mir29a
microRNA 29a
IEP
RGD
PMID:28757556
RGD:25824949
NCBI chr 4:58,343,931...58,344,018
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Ift172
intraflagellar transport 172
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr 6:26,390,686...26,485,459
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
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
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
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
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all