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.
GViewer not supported for the selected species.
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Trpv1
transient receptor potential cation channel subfamily V member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19566590
NCBI chrNW_004955467:13,221,391...13,239,089
Ensembl chrNW_004955467:13,221,391...13,239,089
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Aaas
aladin WD repeat nucleoporin
ISO
RGD
PMID:16098009
RGD:1598514
NCBI chrNW_004955458:567,487...577,228
Ensembl chrNW_004955458:567,518...577,372
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Lmna
lamin A/C
ISO
OMIM:200400
MouseDO
NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
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Nos1
nitric oxide synthase 1
ISO
OMIM:200400
MouseDO
NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
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Spry2
sprouty RTK signaling antagonist 2
ISO
OMIM:200400
MouseDO
NCBI chrNW_004955404:27,349,286...27,353,706
Ensembl chrNW_004955404:27,349,519...27,353,706
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Vipr1
vasoactive intestinal peptide receptor 1
onset
ISO
DNA:SNP:intron:rs437876 (human)
RGD
PMID:19309439
RGD:5685626
NCBI chrNW_004955420:28,234,590...28,253,146
Ensembl chrNW_004955420:28,234,153...28,253,168
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Aamp
angio associated migratory cell protein
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:15,104,229...15,109,487
Ensembl chrNW_004955453:15,104,229...15,112,468
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Abcb6
ATP binding cassette subfamily B member 6 (LAN blood group)
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,215,104...14,222,338
Ensembl chrNW_004955453:14,215,408...14,222,172
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Ankzf1
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,196,728...14,204,344
Ensembl chrNW_004955453:14,196,927...14,203,826
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Arpc2
actin related protein 2/3 complex subunit 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:15,117,978...15,145,895
Ensembl chrNW_004955453:15,116,093...15,146,041
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Asic4
acid sensing ion channel subunit family member 4
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:13,937,745...13,961,664
Ensembl chrNW_004955453:13,935,826...13,961,664
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Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,203,798...14,214,760
Ensembl chrNW_004955453:14,206,065...14,213,729
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:15,008,225...15,015,030
Ensembl chrNW_004955453:15,008,368...15,015,520
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Cdk5r2
cyclin dependent kinase 5 regulatory subunit 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,471,625...14,474,082
Ensembl chrNW_004955453:14,472,757...14,473,896
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Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,394,853...14,431,774
Ensembl chrNW_004955453:14,397,700...14,433,204
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Chpf
chondroitin polymerizing factor
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:13,932,822...13,937,587
Ensembl chrNW_004955453:13,932,822...13,939,350
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Cnot9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,819,007...14,845,879
Ensembl chrNW_004955453:14,816,910...14,845,912
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Cnppd1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,263,619...14,270,701
Ensembl chrNW_004955453:14,264,707...14,270,732
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Cryba2
crystallin beta A2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,438,658...14,444,469
Ensembl chrNW_004955453:14,441,007...14,444,497
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Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,971,276...14,976,667
Ensembl chrNW_004955453:14,968,484...14,976,667
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:15,181,027...15,196,224
Ensembl chrNW_004955453:15,194,205...15,195,272
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Des
desmin
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246
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Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,147,286...14,154,396
Ensembl chrNW_004955453:14,148,070...14,154,670
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,072,924...14,082,222
Ensembl chrNW_004955453:14,072,924...14,082,222
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Fev
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,449,352...14,453,145
Ensembl chrNW_004955453:14,449,352...14,452,663
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Glb1l
galactosidase beta 1 like
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,185,582...14,196,779
Ensembl chrNW_004955453:14,185,692...14,196,779
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Gmppa
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
OMIM ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478
NCBI chrNW_004955453:13,967,118...13,974,351
Ensembl chrNW_004955453:13,965,174...13,974,789
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Gpbar1
G protein-coupled bile acid receptor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:15,109,711...15,112,438
Ensembl chrNW_004955453:15,109,711...15,112,438
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747
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LOC102004889
sterol 26-hydroxylase, mitochondrial
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
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LOC102007967
mitochondrial chaperone BCS1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383
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Nhej1
non-homologous end joining factor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:13,905,992...13,932,652
Ensembl chrNW_004955453:13,906,013...13,925,681
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Plcd4
phospholipase C delta 4
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,775,119...14,812,872
Ensembl chrNW_004955453:14,787,677...14,806,485
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Pnkd
PNKD metallo-beta-lactamase domain containing
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:15,030,436...15,104,084
Ensembl chrNW_004955453:15,030,436...15,104,084
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Prkag3
protein kinase AMP-activated non-catalytic subunit gamma 3
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,584,405...14,594,112
Ensembl chrNW_004955453:14,584,412...14,595,369
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Ptprn
protein tyrosine phosphatase receptor type N
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,126,416...14,145,347
Ensembl chrNW_004955453:14,126,416...14,145,347
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Resp18
regulated endocrine specific protein 18
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,106,430...14,111,920
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Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,258,523...14,263,573
Ensembl chrNW_004955453:14,258,523...14,263,573
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Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,753,575...14,761,617
Ensembl chrNW_004955453:14,753,575...14,761,617
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Slc11a1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Slc23a3
solute carrier family 23 member 3
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,271,343...14,278,233
Ensembl chrNW_004955453:14,271,343...14,278,233
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Speg
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:13,979,080...14,033,718
Ensembl chrNW_004955453:13,976,674...14,033,252
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Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,182,167...14,185,569
Ensembl chrNW_004955453:14,182,066...14,185,584
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,727,779...14,753,534
Ensembl chrNW_004955453:14,728,583...14,753,534
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Tmbim1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:15,083,179...15,100,197
Ensembl chrNW_004955453:15,092,522...15,099,021
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Tmem198
transmembrane protein 198
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:13,925,939...13,932,557
Ensembl chrNW_004955453:13,924,608...13,932,557
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Ttll4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,679,945...14,720,025
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Tuba4a
tubulin alpha 4a
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,177,043...14,180,814
Ensembl chrNW_004955453:14,175,866...14,182,023
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Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,846,044...14,931,336
Ensembl chrNW_004955453:14,846,044...14,931,336
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Vil1
villin 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,935,450...14,961,011
Ensembl chrNW_004955453:14,935,456...14,961,011
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818
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Wnt6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,547,427...14,560,001
Ensembl chrNW_004955453:14,545,700...14,560,976
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Zfand2b
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,222,423...14,225,681
Ensembl chrNW_004955453:14,221,002...14,225,681
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Znf142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,766,665...14,786,403
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Gpx3
glutathione peroxidase 3
ISO
DNA:hypermethylation DNA:hypermethylation:promoter
RGD
PMID:16229808 PMID:18664505
RGD:151665354 RGD:151665749
NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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Gpx7
glutathione peroxidase 7
ISO
DNA:hypermethylation:promoter
RGD
PMID:18664505
RGD:151665749
NCBI chrNW_004955464:6,560,198...6,566,763
Ensembl chrNW_004955464:6,558,336...6,566,763
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Ascc1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma
OMIM ClinVar
PMID:21791690 PMID:25741868 PMID:28492532
NCBI chrNW_004955437:19,381,279...19,487,057
Ensembl chrNW_004955437:19,381,279...19,490,822
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B3gat2
beta-1,3-glucuronyltransferase 2
ISO
DNA:hypermethylation:esophageal squamous epithelium
RGD
PMID:26545406
RGD:11552890
NCBI chrNW_004955488:5,866,148...5,926,567
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Becn1
beclin 1
disease_progression
ISO
RGD
PMID:22301112
RGD:11561943
NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730
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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
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Cdh13
cadherin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18729198
NCBI chrNW_004955564:407,120...1,549,880
Ensembl chrNW_004955564:408,730...1,426,841
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Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:nucleus of esophagus mucosa:
RGD
PMID:11753681
RGD:8662398
NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
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Cdx2
caudal type homeobox 2
disease_progression
ISO
RGD
PMID:23011828
RGD:7349348
NCBI chrNW_004955497:7,316,372...7,321,627
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Cthrc1
collagen triple helix repeat containing 1
ISO
ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma
OMIM ClinVar
PMID:21791690
NCBI chrNW_004955417:27,520,420...27,525,907
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15387324
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Fas
Fas cell surface death receptor
severity
ISO
RGD
PMID:10821489
RGD:12903968
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Foxp1
forkhead box P1
ISO
DNA:snp:enhancer:g.70879779A>C (rs2687201) (human)
RGD
PMID:25447851
RGD:11560527
NCBI chrNW_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923
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Gast
gastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15387324
NCBI chrNW_004955451:15,987,160...15,988,067
Ensembl chrNW_004955451:15,987,597...15,988,131
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Gpx3
glutathione peroxidase 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:18664505
RGD:151665749
NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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Gpx7
glutathione peroxidase 7
ISO
DNA:hypermethylation:promoter
RGD
PMID:18664505
RGD:151665749
NCBI chrNW_004955464:6,560,198...6,566,763
Ensembl chrNW_004955464:6,558,336...6,566,763
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15387324
NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058
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Igfbp3
insulin like growth factor binding protein 3
ISO
associated with Aneuploidy; protein:increased expression:serum:
RGD
PMID:18006928
RGD:12743582
NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127259
NCBI chrNW_004955413:238,043...243,317
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Mki67
marker of proliferation Ki-67
severity
ISO
RGD
PMID:22147251
RGD:6483521
NCBI chrNW_004955477:5,847,288...5,875,970
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Mmp12
matrix metallopeptidase 12
ISO
DNA:snp:promoter:g.-82A>G rs2276109 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262
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Msr1
macrophage scavenger receptor 1
ISO
ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma | ClinVar Annotator: match by term: Barrett's esophagus
OMIM ClinVar
PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004955463:1,197,086...1,263,943
Ensembl chrNW_004955463:1,197,022...1,264,765
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Muc2
mucin 2, oligomeric mucus/gel-forming
disease_progression
ISO
RGD
PMID:23011828
RGD:7349348
NCBI chrNW_004955476:11,108,826...11,135,697
Ensembl chrNW_004955476:11,108,826...11,135,697
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Nr1i2
nuclear receptor subfamily 1 group I member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21977915
NCBI chrNW_004955427:19,459,936...19,487,276
Ensembl chrNW_004955427:19,459,936...19,487,276
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Pparg
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15387324
NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
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Ptges
prostaglandin E synthase
ISO
mRNA:increased expression:esophagus
RGD
PMID:14684572
RGD:2300107
NCBI chrNW_004955445:10,053,745...10,056,981
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
mRNA: increased expression: Esophagus CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11059772 PMID:12105834 PMID:15387324 PMID:17244951 PMID:17675820 PMID:23011828 More...
RGD:13207438 RGD:1642603 RGD:7349348
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15387324
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Slc9a1
solute carrier family 9 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127259
NCBI chrNW_004955452:6,409,833...6,467,841
Ensembl chrNW_004955452:6,409,833...6,467,841
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Smo
smoothened, frizzled class receptor
treatment
ISO
RGD
PMID:23108119
RGD:150340553
NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:25910066
RGD:11055189
NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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Cenpc
centromere protein C
ISO
associated with Anticentromere antibody positivity
RGD
PMID:25220385
RGD:27372886
NCBI chrNW_004955447:5,345,617...5,406,889
Ensembl chrNW_004955447:5,345,896...5,406,730
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Fbn1
fibrillin 1
ISO
RGD
PMID:10395706
RGD:12910471
NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761
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Megf10
multiple EGF like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chrNW_004955415:393,642...513,157
Ensembl chrNW_004955415:335,012...513,891
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Neb
nebulin
ISO
ClinVar Annotator: match by term: Dysphagia
ClinVar
PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532
NCBI chrNW_004955440:17,060,303...17,259,558
Ensembl chrNW_004955440:17,060,498...17,259,558
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Rif1
replication timing regulatory factor 1
ISO
ClinVar Annotator: match by term: Dysphagia
ClinVar
PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532
NCBI chrNW_004955440:16,977,710...17,047,809
Ensembl chrNW_004955440:16,979,042...17,041,748
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Slc6a3
solute carrier family 6 member 3
ISO
ClinVar Annotator: match by term: Dysphagia
ClinVar
NCBI chrNW_004955504:721,470...747,553
Ensembl chrNW_004955504:721,429...747,630
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Tamm41
TAM41 mitochondrial translocator assembly and maintenance homolog
ISO
ClinVar Annotator: match by term: Dysphagia
ClinVar
PMID:35321494
NCBI chrNW_004955429:14,452,473...14,500,441
Ensembl chrNW_004955429:14,452,531...14,500,287
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Tsen2
tRNA splicing endonuclease subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18711368
NCBI chrNW_004955429:14,970,105...14,997,459
Ensembl chrNW_004955429:14,969,289...14,997,220
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Tsen34
tRNA splicing endonuclease subunit 34
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18711368
NCBI chrNW_004955604:84,072...89,419
Ensembl chrNW_004955604:84,072...89,419
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Tsen54
tRNA splicing endonuclease subunit 54
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18711368
NCBI chrNW_004955553:2,367,476...2,376,704
Ensembl chrNW_004955553:2,367,480...2,376,704
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Uchl1
ubiquitin C-terminal hydrolase L1
ISO
DNA:deletion
RGD
PMID:11555633
RGD:1302546
NCBI chrNW_004955443:6,367,519...6,379,638
Ensembl chrNW_004955443:6,367,460...6,380,462
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Uchl3
ubiquitin C-terminal hydrolase L3
ISO
RGD
PMID:11555633
RGD:1302546
NCBI chrNW_004955404:31,414,076...31,465,205
Ensembl chrNW_004955404:31,414,208...31,464,968
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Megf10
multiple EGF like domains 10
ISO
ClinVar Annotator: match by term: MEGF10-related myopathy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 PMID:22371254 PMID:23453856 PMID:23954233 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26802438 PMID:28492532 PMID:28498977 PMID:31127727 PMID:31501239 PMID:35370044 PMID:36349186 More...
NCBI chrNW_004955415:393,642...513,157
Ensembl chrNW_004955415:335,012...513,891
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Ankrd27
ankyrin repeat domain 27
ISO
DNA:SNPs:intron: (rs3815700, rs10410895) (human)
RGD
PMID:25407941
RGD:11100048
NCBI chrNW_004955468:5,314,779...5,364,925
Ensembl chrNW_004955468:5,324,858...5,363,778
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Capn14
calpain 14
ISO
mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism DNA:snps:multiple (human)
RGD CTD
PMID:25017104 PMID:25407941
RGD:11100048 RGD:11100049
NCBI chrNW_004955469:12,899,174...12,929,408
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Ccl26
C-C motif chemokine ligand 26
treatment
ISO
protein:increased expression:esophagus (human)
RGD
PMID:18844613 PMID:24704289
RGD:11081156 RGD:11081157
NCBI chrNW_004955456:14,554,583...14,558,967
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:1316818
RGD:6893390
NCBI chrNW_004955420:25,702,917...25,723,269
Ensembl chrNW_004955420:25,701,407...25,723,353
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Cd40lg
CD40 ligand
ISO
protein:decreased expression:plasma
RGD
PMID:21211656
RGD:5490306
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Il5
interleukin 5
ISO
RGD
PMID:23161496
RGD:11354947
NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:esophagus (human)
RGD
PMID:22331014
RGD:6771318
NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188
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Tgfb1
transforming growth factor beta 1
ISO
RGD
PMID:24486052
RGD:11073602
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20208534
NCBI chrNW_004955418:4,041,529...4,045,534
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Ambra1
autophagy and beclin 1 regulator 1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955422:1,455,392...1,644,368
Ensembl chrNW_004955422:1,455,380...1,644,452
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542
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Atp6v0a1
ATPase H+ transporting V0 subunit a1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955451:16,396,287...16,442,596
Ensembl chrNW_004955451:16,396,287...16,444,932
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506
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Cdc27
cell division cycle 27
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955478:9,927,871...10,002,020
Ensembl chrNW_004955478:9,927,871...10,002,020
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Cmip
c-Maf inducing protein
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955522:4,128,454...4,314,340
Ensembl chrNW_004955522:4,128,454...4,315,322
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Disp1
dispatched RND transporter family member 1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
PMID:25741868 PMID:36135330
NCBI chrNW_004955520:1,591,831...1,711,871
Ensembl chrNW_004955520:1,591,737...1,712,449
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Drosha
drosha ribonuclease III
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955426:17,387,595...17,505,126
Ensembl chrNW_004955426:17,387,534...17,502,294
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Dscam
DS cell adhesion molecule
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955407:39,985,501...40,473,330
Ensembl chrNW_004955407:39,986,108...40,473,200
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Dst
dystonin
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955502:3,175,918...3,610,823
Ensembl chrNW_004955502:3,267,527...3,610,823
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Eftud2
elongation factor Tu GTP binding domain containing 2
ISO
DNA:mutations:multiple (human)
RGD
PMID:23188108
RGD:10045556
NCBI chrNW_004955451:17,655,659...17,690,117
Ensembl chrNW_004955451:17,653,125...17,690,117
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
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Hoxc4
homeobox C4
ISO
mRNA:decreased expression:lung (mouse)
RGD
PMID:17211587
RGD:10402180
NCBI chrNW_004955458:1,251,601...1,313,291
Ensembl chrNW_004955458:1,309,119...1,313,344
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Igsf3
immunoglobulin superfamily member 3
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955435:19,703,952...19,796,065
Ensembl chrNW_004955435:19,706,516...19,795,432
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Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
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Itgb1
integrin subunit beta 1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955462:4,454,809...4,483,227
Ensembl chrNW_004955462:4,454,809...4,484,842
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Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955413:2,614,685...2,676,292
Ensembl chrNW_004955413:2,614,685...2,676,292
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Mid2
midline 2
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955490:7,977,771...8,168,912
Ensembl chrNW_004955490:7,973,211...8,088,427
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Nags
N-acetylglutamate synthase
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955451:17,182,392...17,186,187
Ensembl chrNW_004955451:17,182,379...17,184,894
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259
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Pde4d
phosphodiesterase 4D
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
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Plk2
polo like kinase 2
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955446:9,671,090...9,676,956
Ensembl chrNW_004955446:9,671,090...9,677,188
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Rpgr
retinitis pigmentosa GTPase regulator
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955601:398,772...453,271
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Sipa1
signal-induced proliferation-associated 1
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955422:19,615,440...19,627,195
Ensembl chrNW_004955422:19,615,440...19,627,088
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Stat5a
signal transducer and activator of transcription 5A
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955451:16,305,363...16,319,219
Ensembl chrNW_004955451:16,305,363...16,318,534
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Tcf4
transcription factor 4
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
PMID:28492532
NCBI chrNW_004955402:39,735,596...40,066,151
Ensembl chrNW_004955402:39,735,600...40,066,151
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Tenm2
teneurin transmembrane protein 2
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955408:20,150,223...21,340,276
Ensembl chrNW_004955408:20,437,067...21,338,897
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Tent5a
terminal nucleotidyltransferase 5A
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955411:9,695,149...9,701,463
Ensembl chrNW_004955411:9,699,011...9,701,507
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
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Wdr13
WD repeat domain 13
ISO
ClinVar Annotator: match by term: Esophageal atresia
ClinVar
NCBI chrNW_004955543:182,279...190,435
Ensembl chrNW_004955543:182,279...190,435
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Brca2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula
ClinVar
PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 PMID:9667259 PMID:9792861 PMID:10638982 PMID:11307153 PMID:11802209 PMID:11897832 PMID:15382066 PMID:16683254 PMID:16905680 PMID:17011978 PMID:17148771 PMID:17576681 PMID:17924331 PMID:18375895 PMID:18821011 PMID:19016756 PMID:19656164 PMID:19863560 PMID:20104584 PMID:20406929 PMID:20694749 PMID:21324516 PMID:21990134 PMID:22217648 PMID:22505045 PMID:22632462 PMID:22798144 PMID:22923021 PMID:23035815 PMID:23199084 PMID:23318356 PMID:23451180 PMID:23621881 PMID:24033266 PMID:24156927 PMID:24249303 PMID:25186627 PMID:25382762 PMID:25480878 PMID:25556971 PMID:25741868 PMID:25884701 PMID:25948282 PMID:26026974 PMID:26295337 PMID:26425718 PMID:26467025 PMID:26786923 PMID:27000661 PMID:27060066 PMID:27271530 PMID:27741520 PMID:28008555 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28715532 PMID:28724667 PMID:28825054 PMID:29084914 PMID:29176636 PMID:29446198 PMID:29625052 PMID:29907814 PMID:30274973 PMID:30287823 PMID:30702160 PMID:30787465 PMID:31143373 PMID:31360904 PMID:31447099 PMID:31825140 PMID:31843900 PMID:32300229 PMID:32338768 PMID:32393398 PMID:32658311 PMID:32772980 PMID:32853339 PMID:32885271 PMID:33471991 PMID:34298626 PMID:35714671 PMID:35949895 PMID:36988593 More...
NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
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Gli2
GLI family zinc finger 2
ISO
RGD
PMID:12947339
RGD:12801415
NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499
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Nog
noggin
ISO
OMIM:189960
RGD MouseDO
PMID:17260385
RGD:12801454
NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740
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Sclt1
sodium channel and clathrin linker 1
ISO
ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula
ClinVar
PMID:25741868 PMID:28492532 PMID:36135330 PMID:36474027
NCBI chrNW_004955428:12,583,203...12,753,577
Ensembl chrNW_004955428:12,583,699...12,753,274
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:25003913
RGD:12801416
NCBI chrNW_004955491:8,647,133...8,657,381
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Akt1
AKT serine/threonine kinase 1
ISO
protein:increased expression:esophagus (human)
RGD
PMID:27188433
RGD:152995510
NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
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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:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:33355142 More...
NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
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Bhlhe41
basic helix-loop-helix family member e41
ISO
protein:increased expression:esophagus(human)
RGD
PMID:29890466
RGD:151665308
NCBI chrNW_004955413:21,100,021...21,103,358
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Brca2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:25741868 PMID:28492532 PMID:31911673
NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
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Ctnna1
catenin alpha 1
disease_progression
ISO
RGD
PMID:9863006
RGD:2289811
NCBI chrNW_004955418:1,592,555...1,754,423
Ensembl chrNW_004955418:1,592,229...1,754,689
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Dcc
DCC netrin 1 receptor
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955402:37,123,112...38,218,876
Ensembl chrNW_004955402:37,123,795...38,218,472
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Dlec1
DLEC1 cilia and flagella associated protein
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:25741868
NCBI chrNW_004955421:4,889,860...4,957,787
Ensembl chrNW_004955421:4,888,888...4,957,327
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:29660336
RGD:21409755
NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
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Gpx3
glutathione peroxidase 3
treatment
ISO
DNA:hypermethylation
RGD
PMID:33292587
RGD:151665781
NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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Hmox1
heme oxygenase 1
ISO
protein:increased expression:esophagus
RGD
PMID:20498946
RGD:4145286
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
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Il10
interleukin 10
treatment
ISO
RGD
PMID:26603620
RGD:152998997
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:26603620
RGD:152998997
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il1r2
interleukin 1 receptor type 2
susceptibility
ISO
DNA:SNP:cds:rs11674595|rs2072472 (human)
RGD
PMID:31744444
RGD:152998961
NCBI chrNW_004955470:7,518,565...7,562,219
Ensembl chrNW_004955470:7,518,663...7,559,470
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Il5
interleukin 5
treatment
ISO
RGD
PMID:20232121
RGD:5134997
NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
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LOC102010850
cytochrome P450 1A1
ISO
RGD
PMID:11833070 PMID:26782562
RGD:11554919 RGD:14700950
NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
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LOC102013768
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
ameliorates
ISO
RNA:decreased expression:esophagus (human)
RGD
PMID:14760115
RGD:152025255
NCBI chrNW_004955445:4,874,583...4,891,723
Ensembl chrNW_004955445:4,873,942...4,891,780
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Lzts1
leucine zipper tumor suppressor 1
ISO
esophageal squamous cell carcinoma, OMIM:133239
RGD
PMID:10097140
RGD:1600104
NCBI chrNW_004955403:43,909,722...43,962,965
Ensembl chrNW_004955403:43,909,681...43,962,971
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Maf
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955522:2,514,313...2,519,694
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Mxi1
MAX interactor 1, dimerization protein
ISO
RGD
PMID:10849326
RGD:1298988
NCBI chrNW_004955485:1,088,175...1,156,521
Ensembl chrNW_004955485:1,088,175...1,156,925
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Myd88
MYD88 innate immune signal transduction adaptor
ISO
mRNA:splice variants:esophagus (human)
RGD
PMID:24527027
RGD:150519911
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
protein:increased expression:esophagus (human)
RGD
PMID:27188433
RGD:152995510
NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
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Pten
phosphatase and tensin homolog
treatment
ISO
human gene and cells in a mouse model protein:decreased expression:esophagus (human)
RGD
PMID:20378992 PMID:27188433
RGD:127285592 RGD:152995510
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
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Socs1
suppressor of cytokine signaling 1
ISO
mRNA,protein:decreased expression:esophagus:
RGD
PMID:33862112
RGD:151232285
NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
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Tgfbr2
transforming growth factor beta receptor 2
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:7664267 PMID:9395234 PMID:9536098 PMID:10789724 PMID:11212236 PMID:12202987 PMID:12825850 PMID:15731757 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18339844 PMID:18781618 PMID:19533785 PMID:20358619 PMID:21267002 PMID:21270064 PMID:21524434 PMID:22113417 PMID:23228659 PMID:23585368 PMID:24033266 PMID:24055113 PMID:24199744 PMID:24941995 PMID:25741868 PMID:25944730 PMID:26017485 PMID:26948038 PMID:27139629 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28492532 PMID:28659821 PMID:28679693 PMID:29168297 PMID:29339704 PMID:29907982 PMID:30222965 PMID:30341550 PMID:30701076 PMID:32528524 PMID:32897753 PMID:33726816 PMID:34572573 More...
NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837
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Tnfaip3
TNF alpha induced protein 3
severity disease_progression
ISO
DNA:SNP:3'utr: (rs583522) (human) DNA:SNP:intron 6: (rs610604) (human)
RGD
PMID:25354935 PMID:26598072
RGD:11075880 RGD:151347597
NCBI chrNW_004955436:21,566,591...21,581,551
Ensembl chrNW_004955436:21,566,423...21,578,469
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:7887414 PMID:8023157 PMID:8118819 PMID:8164043 PMID:8825920 PMID:9047394 PMID:11101847 PMID:12007217 PMID:12619118 PMID:12826609 PMID:14743206 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:23172776 PMID:23263379 PMID:23713777 PMID:23792586 PMID:24033266 PMID:24573247 PMID:25059482 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27153395 PMID:27374712 PMID:27516001 PMID:28349240 PMID:28492532 PMID:28873162 PMID:29979965 PMID:30224644 PMID:30816478 PMID:31775759 PMID:32000721 PMID:36988593 More...
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Wwox
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Esophagus cancer
ClinVar
PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29808465 PMID:30356099 PMID:30853297 PMID:35573960 More...
NCBI chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:missense mutation:exon 9: p.T304A, c.910A>G (human)
RGD
PMID:24345911
RGD:150530620
NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
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Akt1
AKT serine/threonine kinase 1
severity
ISO
DNA:SNPs:introns: (rs3803304, rs1130214)
RGD
PMID:19164214
RGD:408345192
NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
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Birc7
baculoviral IAP repeat containing 7
disease_progression
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chrNW_004955528:919,246...922,581
Ensembl chrNW_004955528:919,246...922,619
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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 PMID:30702160 PMID:31131967 PMID:32467295 PMID:33471991 PMID:35464868 More...
NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus | 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 More...
NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
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Dcc
DCC netrin 1 receptor
ISO
ClinVar Annotator: match by term: Esophageal carcinoma, somatic
ClinVar
PMID:8187090
NCBI chrNW_004955402:37,123,112...38,218,876
Ensembl chrNW_004955402:37,123,795...38,218,472
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus
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 PMID:25521405 PMID:26051236 PMID:29141884 More...
NCBI chrNW_004955456:321,222...456,431
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar
PMID:26619011
NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar
PMID:16397024 PMID:23220880 PMID:25157968 PMID:26619011
NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chrNW_004955471:6,852,459...7,026,590
Ensembl chrNW_004955471:6,848,101...6,955,881
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:25157968 PMID:26619011
NCBI chrNW_004955551:2,321,190...2,427,000
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Grb7
growth factor receptor bound protein 7
exacerbates
ISO
mRNA:increased expression:esophagus mucosa (human)
RGD
PMID:8988034
RGD:151347660
NCBI chrNW_004955451:14,463,032...14,470,392
Ensembl chrNW_004955451:14,464,541...14,474,070
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus | 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:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 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:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
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Htra1
HtrA serine peptidase 1
disease_progression
ISO
mRNA,protein:decreased expression:esophagus (human)
RGD
PMID:22935172
RGD:152985525
NCBI chrNW_004955477:761,127...808,396
Ensembl chrNW_004955477:761,127...808,994
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Jak2
Janus kinase 2
treatment
ISO
associated with Immune Deficiency Disease, human cells in mouse model
RGD
PMID:25724470
RGD:127285656
NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
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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 PMID:30891959 More...
NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus | 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:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 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:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700
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Map2k7
mitogen-activated protein kinase kinase 7
exacerbates
ISO
mRNA:decreased expression:espohagus (human)
RGD
PMID:32831056
RGD:155630592
NCBI chrNW_004955563:1,352,638...1,361,598
Ensembl chrNW_004955563:1,352,638...1,361,598
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus
ClinVar
PMID:25157968 PMID:26619011
NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
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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 Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 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:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 PMID:37712948 More...
NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
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Rhoa
ras homolog family member A
ISO
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:26619011
NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451
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Slc7a5
solute carrier family 7 member 5
severity
ISO
RGD
PMID:15906366
RGD:151361282
NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310
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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:15799969 PMID:16613914 PMID:17132729 PMID:17873119 PMID:17994767 PMID:18823382 PMID:20101697 PMID:20301642 PMID:22316667 PMID:22331366 PMID:25741868 PMID:26572829 PMID:26619011 PMID:26900293 PMID:27595937 PMID:28492532 PMID:31837202 PMID:32300199 PMID:32573726 PMID:32944796 PMID:33326750 More...
NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
associated with Immune Deficiency Disease, human cells in mouse model
RGD
PMID:25724470
RGD:127285656
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma | ClinVar Annotator: match by term: Esophageal carcinoma, somatic
ClinVar
PMID:124622 PMID:253702 PMID:960674 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:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7478555 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7750099 PMID:7761089 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8631304 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8843196 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9049184 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:9839505 PMID:9979965 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10629033 PMID:10713666 PMID:10732753 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12406399 PMID:12506399 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:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16247456 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16492679 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:17170001 PMID:17308077 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:17881637 PMID:17974978 PMID:17999388 PMID:18208484 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367287 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 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:20182602 PMID:20195489 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20586629 PMID:20589832 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22862161 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:22999923 PMID:23028800 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:23612969 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23939625 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:24857548 PMID:24940547 PMID:25119136 PMID:25157968 PMID:25186627 PMID:25294809 PMID:25339994 PMID:25381062 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 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:25961455 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26554828 PMID:26556299 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26655088 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:27050224 PMID:27077130 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27557517 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28166194 PMID:28271309 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28772286 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31050713 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32126783 PMID:32156018 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32371905 PMID:32401780 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32959997 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33635883 PMID:33674644 PMID:33758026 PMID:33818021 PMID:33840814 PMID:34240179 PMID:34266904 PMID:34308366 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36168441 PMID:36219266 PMID:36988593 More...
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Abcb1
ATP binding cassette subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21332314
NCBI chrNW_004955432:4,911,774...5,085,349
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239
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Actb
actin beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955460:10,358,100...10,361,585
Ensembl chrNW_004955460:10,356,699...10,361,585
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Adh7
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18500343
NCBI chrNW_004955496:8,065,943...8,100,878
Ensembl chrNW_004955496:8,065,943...8,102,066
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Akap13
A-kinase anchoring protein 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chrNW_004955416:19,006,206...19,327,523
Ensembl chrNW_004955416:19,009,485...19,247,626
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8850269
NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
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Alox15
arachidonate 15-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406566
NCBI chrNW_004955467:10,032,792...10,039,789
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Aqp3
aquaporin 3 (Gill blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chrNW_004955472:2,234,770...2,239,753
Ensembl chrNW_004955472:2,234,770...2,240,027
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Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17634542
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
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Bbc3
BCL2 binding component 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16481741
NCBI chrNW_004955574:1,167,790...1,174,966
Ensembl chrNW_004955574:1,167,242...1,174,966
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Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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Bcl2a1
BCL2 related protein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17634542
NCBI chrNW_004955533:773,912...785,040
Ensembl chrNW_004955533:773,912...785,037
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Bsg
basigin (Ok blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36574092
NCBI chrNW_004955495:7,148,806...7,156,296
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Casp8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17450141 PMID:21472143
NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12235107
NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
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Ccnh
cyclin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chrNW_004955418:23,790,398...23,807,509
Ensembl chrNW_004955418:23,790,001...23,807,702
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Cdh13
cadherin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18729198
NCBI chrNW_004955564:407,120...1,549,880
Ensembl chrNW_004955564:408,730...1,426,841
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Cdkn1a
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:11903577
RGD:8662379
NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
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Cryab
crystallin alpha B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7692001
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Dcc
DCC netrin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955402:37,123,112...38,218,876
Ensembl chrNW_004955402:37,123,795...38,218,472
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21298351 PMID:21468131 PMID:22042947
NCBI chrNW_004955456:321,222...456,431
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Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22042947
NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379
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Fas
Fas cell surface death receptor
ISO
protein:decreased expression:esophageal mucosa:
RGD
PMID:9605741
RGD:11049151
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Faslg
Fas ligand
ISO
protein:increased expression:esophageal mucosa:
RGD
PMID:9605741
RGD:11049151
NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
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Ghrl
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
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Gng7
G protein subunit gamma 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18219292
NCBI chrNW_004955495:4,889,198...4,995,288
Ensembl chrNW_004955495:4,889,198...4,893,353
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Grik2
glutamate ionotropic receptor kainate type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chrNW_004955411:27,096,214...27,759,503
Ensembl chrNW_004955411:27,103,470...27,801,177
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Kdr
kinase insert domain receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143 PMID:35917945
NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
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Lgals3
galectin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17634542
NCBI chrNW_004955409:8,448,120...8,452,437
Ensembl chrNW_004955409:8,447,774...8,452,438
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LOC102023780
aromatase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
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Lzts1
leucine zipper tumor suppressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955403:43,909,722...43,962,965
Ensembl chrNW_004955403:43,909,681...43,962,971
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Macir
macrophage immunometabolism regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chrNW_004955418:10,752,250...10,767,791
Ensembl chrNW_004955418:10,752,250...10,767,791
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Map3k3
mitogen-activated protein kinase kinase kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chrNW_004955478:8,122,999...8,185,138
Ensembl chrNW_004955478:8,125,436...8,199,253
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Marchf8
membrane associated ring-CH-type finger 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chrNW_004955546:2,558,027...2,641,108
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22042947
NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647
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Mlh3
mutL homolog 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16981255
NCBI chrNW_004955523:515,409...547,257
Ensembl chrNW_004955523:518,565...546,410
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Mmp14
matrix metallopeptidase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
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Myc
MYC proto-oncogene, bHLH transcription factor
treatment
ISO
RGD
PMID:22844359
RGD:7207890
NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15264214
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
G
Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472143
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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Nr1i2
nuclear receptor subfamily 1 group I member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21977915
NCBI chrNW_004955427:19,459,936...19,487,276
Ensembl chrNW_004955427:19,459,936...19,487,276
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Phb1
prohibitin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955451:12,110,290...12,119,870
Ensembl chrNW_004955451:12,110,290...12,120,124
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Prdx1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955464:12,761,390...12,773,413
Ensembl chrNW_004955464:12,761,401...12,773,146
G
Prdx2
peroxiredoxin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955415:31,880,801...31,884,453
Ensembl chrNW_004955415:31,880,588...31,884,778
G
Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189197
NCBI chrNW_004955419:5,678,750...5,699,305
Ensembl chrNW_004955419:5,678,694...5,699,305
G
Ptgs2
prostaglandin-endoperoxide synthase 2
susceptibility
ISO
DNA:SNPs: :-1195A > G, -765G > C (human) mRNA,protein:increased expression:Esophagus CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11059772 PMID:16083713 PMID:16322294 PMID:17707579 PMID:22165968
RGD:5135528 RGD:5687745
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
G
Rnf6
ring finger protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955497:5,744,485...5,754,728
Ensembl chrNW_004955497:5,744,157...5,754,728
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Runx3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18058463
NCBI chrNW_004955452:4,580,444...4,606,820
Ensembl chrNW_004955452:4,579,331...4,636,884
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Sfn
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955452:6,217,519...6,218,481
Ensembl chrNW_004955452:6,217,698...6,218,444
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Slc30a7
solute carrier family 30 member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chrNW_004955435:5,530,591...5,609,613
Ensembl chrNW_004955435:5,530,591...5,609,613
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Smyd2
SET and MYND domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25825497
NCBI chrNW_004955406:3,467,123...3,509,156
Ensembl chrNW_004955406:3,465,924...3,509,156
G
Snai2
snail family transcriptional repressor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chrNW_004955454:8,759,860...8,763,603
Ensembl chrNW_004955454:8,758,636...8,764,427
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11053990 PMID:15986332
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Tgfbr2
transforming growth factor beta receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789724
NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837
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Tgm2
transglutaminase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17068819
NCBI chrNW_004955445:18,544,192...18,576,576
Ensembl chrNW_004955445:18,544,183...18,576,570
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:esophageal mucosa:
CTD RGD
PMID:12706858 PMID:16778087 PMID:17634542 PMID:26192916 PMID:26439224
RGD:11075085 RGD:8547873
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Tpm1
tropomyosin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011
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Tpm4
tropomyosin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955524:1,419,061...1,432,114
Ensembl chrNW_004955524:1,415,848...1,432,139
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Trmt11
tRNA methyltransferase 11 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chrNW_004955436:7,274,848...7,318,762
Ensembl chrNW_004955436:7,274,745...7,320,997
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Tufm
Tu translation elongation factor, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004955493:6,619,205...6,623,780
Ensembl chrNW_004955493:6,619,205...6,623,780
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Uchl1
ubiquitin C-terminal hydrolase L1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15930319
NCBI chrNW_004955443:6,367,519...6,379,638
Ensembl chrNW_004955443:6,367,460...6,380,462
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Wif1
WNT inhibitory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17384664
NCBI chrNW_004955458:11,755,147...11,834,047
Ensembl chrNW_004955458:11,754,120...11,834,047
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Wwox
WW domain containing oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562
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Xiap
X-linked inhibitor of apoptosis
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17611394
NCBI chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
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Xrcc3
X-ray repair cross complementing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21347786
NCBI chrNW_004955538:2,499,297...2,511,898
Ensembl chrNW_004955538:2,501,607...2,509,778
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11121210
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Alb
albumin
ISO
associated with ascites
RGD
PMID:8664482
RGD:1601159
NCBI chrNW_004955447:9,327...21,212
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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
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Il13
interleukin 13
ISO
RGD
PMID:20543112
RGD:4145528
NCBI chrNW_004955408:4,046,406...4,049,795
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Il4r
interleukin 4 receptor
susceptibility
ISO
associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human)
RGD
PMID:20811626
RGD:5131286
NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
associated with carcinoma, non-small-cell lung;
RGD
PMID:20811626
RGD:5131286
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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Slc7a5
solute carrier family 7 member 5
ISO
protein:increased expression:epithelium
RGD
PMID:28370814
RGD:151361286
NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11121210
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Tnf
tumor necrosis factor
susceptibility
ISO
associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human)
RGD
PMID:20811626
RGD:5131286
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Trpv1
transient receptor potential cation channel subfamily V member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16091555
NCBI chrNW_004955467:13,221,391...13,239,089
Ensembl chrNW_004955467:13,221,391...13,239,089
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
onset
ISO
DNA:SNP:3'utr: (rs4740363) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239
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Arid1a
AT-rich interaction domain 1A
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23525077 PMID:31906887
RGD:127285649
NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
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Barx1
BARX homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121790
NCBI chrNW_004955515:4,230,713...4,234,189
Ensembl chrNW_004955515:4,229,783...4,234,191
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Bcl2
BCL2 apoptosis regulator
onset
ISO
DNA:SNPs:3'utr: (rs720321, rs17757541) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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Becn1
beclin 1
ISO
RGD
PMID:22301112
RGD:11561943
NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730
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Birc3
baculoviral IAP repeat containing 3
treatment
ISO
RGD
PMID:26291056
RGD:152999007
NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410
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Casp8
caspase 8
onset
ISO
DNA:SNP:5'utr: (rs1035142) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
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Cdc5l
cell division cycle 5 like
disease_progression
ISO
protein:increased expression:esophageal mucosa (human)
RGD
PMID:15725809
RGD:10047052
NCBI chrNW_004955437:9,990,613...10,032,034
Ensembl chrNW_004955437:9,990,613...10,032,034
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Crtc1
CREB regulated transcription coactivator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24121790
NCBI chrNW_004955524:2,884,654...2,940,601
Ensembl chrNW_004955524:2,884,654...2,940,815
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Ctsb
cathepsin B
ISO
RGD
PMID:9770500
RGD:734853
NCBI chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809
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Dock2
dedicator of cytokinesis 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chrNW_004955408:22,630,375...23,059,832
Ensembl chrNW_004955408:22,630,364...23,059,899
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Elmo1
engulfment and cell motility 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chrNW_004955460:6,044,827...6,580,770
Ensembl chrNW_004955460:6,044,725...6,581,269
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Emx2
empty spiracles homeobox 2
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:31432154
RGD:153323302
NCBI chrNW_004955431:22,192,446...22,199,141
Ensembl chrNW_004955431:22,192,446...22,199,279
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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 chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
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Fas
Fas cell surface death receptor
ISO
associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human)
RGD
PMID:10340890
RGD:8662425
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Foxa1
forkhead box A1
ISO
protein:increased expression:esophagus
RGD
PMID:12234996
RGD:151665758
NCBI chrNW_004955409:23,598,127...23,599,827
Ensembl chrNW_004955409:23,598,127...23,599,461
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Foxp1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)
CTD RGD
PMID:24121790 PMID:26383589
RGD:11535321
NCBI chrNW_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923
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Ghrl
ghrelin and obestatin prepropeptide
onset
ISO
DNA:SNP:5'utr: (rs696217) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
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Gpx3
glutathione peroxidase 3
susceptibility
ISO
DNA:SNPs:intron: (rs4958872, rs3792797) (human)
RGD
PMID:22715394
RGD:152995500
NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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Grb7
growth factor receptor bound protein 7
treatment exacerbates
ISO
human cells in a mouse model
RGD
PMID:31809243 PMID:32737994
RGD:151347656 RGD:151347659
NCBI chrNW_004955451:14,463,032...14,470,392
Ensembl chrNW_004955451:14,464,541...14,474,070
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Kdr
kinase insert domain receptor
onset
ISO
DNA:SNP:5'utr: (rs11941492) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
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LOC102013768
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
treatment
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:30187205
RGD:151665176
NCBI chrNW_004955445:4,874,583...4,891,723
Ensembl chrNW_004955445:4,873,942...4,891,780
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LOC102023780
aromatase
onset
ISO
DNA:SNP:5'utr: (rs2445762) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
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Mmp12
matrix metallopeptidase 12
ISO
DNA:snp:promoter:g.-82A>G rs2276109 (human)
RGD
PMID:19321798
RGD:7207058
NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262
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Mmp14
matrix metallopeptidase 14
onset
ISO
DNA:SNP:5'utr: (rs2236302) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:esophagus
RGD
PMID:25562781
RGD:13204790
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Nell1
neural EGFL like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17452981
NCBI chrNW_004955476:1,445,234...2,236,954
Ensembl chrNW_004955476:1,445,353...2,233,146
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Nos3
nitric oxide synthase 3
onset
ISO
DNA:SNP:3'utr: (rs2070744) (human)
RGD
PMID:21472143
RGD:126925218
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
mRNA,protein:increased expression:Esophagus
RGD
PMID:22165968
RGD:5687745
NCBI chrNW_004955419:5,678,750...5,699,305
Ensembl chrNW_004955419:5,678,694...5,699,305
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein: increased expression: esophagus
CTD RGD
PMID:12055587 PMID:12507933
RGD:13207437
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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Slc22a18
solute carrier family 22 member 18
disease_progression
ISO
DNA:hypermethylation: (human)
RGD
PMID:23243219
RGD:150557426
NCBI chrNW_004955422:14,590,588...14,615,898
Ensembl chrNW_004955422:14,592,250...14,616,890
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Smad4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077 PMID:24952744
NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538
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Smo
smoothened, frizzled class receptor
treatment
ISO
RGD
PMID:23108119
RGD:150340553
NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165
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Sod2
superoxide dismutase 2
ISO
RGD
PMID:17785574
RGD:2317403
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Spart
spartin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chrNW_004955431:9,758,159...9,786,468
Ensembl chrNW_004955431:9,758,053...9,786,644
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Tlr4
toll like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23525077
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Vdr
vitamin D receptor
disease_progression susceptibility
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:24951052 PMID:25910066
RGD:11055189 RGD:13432070
NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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Abcc2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21206495
NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
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Adcyap1
adenylate cyclase activating polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955402:9,091,927...9,099,803
Ensembl chrNW_004955402:9,091,725...9,099,803
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Ajuba
ajuba LIM protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955409:37,318,597...37,329,068
Ensembl chrNW_004955409:37,318,597...37,329,155
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Akt1
AKT serine/threonine kinase 1
disease_progression
ISO
protein:increased expression:esophagus (human)
RGD
PMID:32642408
RGD:152995512
NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16639733 PMID:22960999
NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
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Anxa1
annexin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955512:5,686,508...5,703,645
G
Atm
ATM serine/threonine kinase
disease_progression
ISO
Smoke Inhalation Injury; mRNA:increased expression:esophagus (human)
RGD
PMID:17019709
RGD:150340713
NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chrNW_004955467:9,261,775...9,268,743
Ensembl chrNW_004955467:9,261,775...9,268,743
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Axin1
axin 1
disease_progression
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:12771989
RGD:150530473
NCBI chrNW_004955442:16,845,728...16,898,301
Ensembl chrNW_004955442:16,843,152...16,898,430
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
disease_progression
ISO
RGD
PMID:28053542
RGD:153350138
NCBI chrNW_004955573:902,153...910,481
Ensembl chrNW_004955573:899,798...912,272
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Azin1
antizyme inhibitor 1
ISO
RGD
PMID:24302582
RGD:14700707
NCBI chrNW_004955417:27,231,695...27,259,564
Ensembl chrNW_004955417:27,231,696...27,259,564
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B2m
beta-2-microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568
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Blvrb
biliverdin reductase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955578:813,834...834,675
Ensembl chrNW_004955578:813,480...838,151
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
RGD
PMID:21165554
RGD:126781701
NCBI chrNW_004955429:6,548,586...6,553,730
Ensembl chrNW_004955429:6,547,731...6,558,105
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Bmp6
bone morphogenetic protein 6
ISO
protein:increased expression:esophagus
RGD
PMID:22364398
RGD:7242413
NCBI chrNW_004955465:6,053,600...6,201,254
Ensembl chrNW_004955465:6,054,931...6,200,377
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Brca1
BRCA1 DNA repair associated
ISO
DNA:SNP: :rs799917 (human)
RGD
PMID:23749772
RGD:126925960
NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
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Brca2
BRCA2 DNA repair associated
ISO
DNA:nonsense mutation: :p.K3326X (human)
RGD
PMID:21279724
RGD:11344913
NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chrNW_004955416:7,105,302...7,159,121
Ensembl chrNW_004955416:7,105,261...7,160,012
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Ca1
carbonic anhydrase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955417:3,270,619...3,313,261
Ensembl chrNW_004955417:3,270,619...3,305,756
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Ca12
carbonic anhydrase 12
severity
ISO
RGD
PMID:26316888
RGD:155226859
NCBI chrNW_004955450:11,927,730...11,975,553
Ensembl chrNW_004955450:11,943,340...11,975,928
G
Ca2
carbonic anhydrase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955417:3,388,110...3,402,798
Ensembl chrNW_004955417:3,386,087...3,402,363
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Calr
calreticulin
ameliorates
ISO
CTD Direct Evidence: marker/mechanism human cells in a mouse model
CTD RGD
PMID:19684620 PMID:21517111 PMID:23814025
RGD:150521679 RGD:150521703
NCBI chrNW_004955415:31,985,147...31,989,372
Ensembl chrNW_004955415:31,985,147...31,989,372
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Capza1
capping actin protein of muscle Z-line subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955435:16,048,213...16,087,814
Ensembl chrNW_004955435:16,048,213...16,087,814
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Casp8
caspase 8
exacerbates
ISO
mRNA,protein:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
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Cbx8
chromobox 8
severity
ISO
mRNA:increased expression:esophagus:
RGD
PMID:25197352
RGD:9587436
NCBI chrNW_004955506:3,035,510...3,038,204
Ensembl chrNW_004955506:3,035,621...3,040,354
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Cchcr1
coiled-coil alpha-helical rod protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chrNW_004955583:979,138...989,267
Ensembl chrNW_004955583:978,825...989,793
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
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Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15375580
NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
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Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
DNA:SNPs: :rs615552, rs573687 (human)
RGD
PMID:23361049
RGD:7248756
NCBI chrNW_004955472:12,275,613...12,280,141
Ensembl chrNW_004955472:12,275,544...12,280,528
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Cfl1
cofilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955422:19,479,181...19,482,571
Ensembl chrNW_004955422:19,479,181...19,482,571
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO
DNA:SNP: :rs667282(human) mRNA:increased expression:esophagus (human)
RGD
PMID:23844051 PMID:27610024
RGD:150524358 RGD:151361143
NCBI chrNW_004955450:945,400...974,129
Ensembl chrNW_004955450:946,898...974,457
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
disease_progression exacerbates
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024 PMID:33603170
RGD:151361143 RGD:151667905
NCBI chrNW_004955416:30,687,518...30,798,700
Ensembl chrNW_004955416:30,687,478...30,798,700
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024
RGD:151361143
NCBI chrNW_004955450:1,013,897...1,030,232
Ensembl chrNW_004955450:1,013,607...1,030,282
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Clic1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955437:269,276...275,949
Ensembl chrNW_004955437:269,276...275,949
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Clptm1l
CLPTM1 like
no_association susceptibility
ISO
mRNA:increased expression:esophagus DNA:SNP: :rs401681(human) DNA:SNP: :rs451360(human)
RGD
PMID:24386361 PMID:25007268 PMID:25480402 PMID:26716642
RGD:11572962 RGD:150530488 RGD:150530497 RGD:150537098
NCBI chrNW_004955504:677,824...695,660
Ensembl chrNW_004955504:677,772...695,660
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Col14a1
collagen type XIV alpha 1 chain
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chrNW_004955417:25,579,547...25,774,067
Ensembl chrNW_004955417:25,579,547...25,774,127
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Crabp1
cellular retinoic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17438526
NCBI chrNW_004955450:810,206...817,011
Ensembl chrNW_004955450:810,151...817,059
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004
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Csf1r
colony stimulating factor 1 receptor
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:32038997
RGD:150524298
NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751
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Cstb
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
ClinVar
PMID:25157968 PMID:25741868 PMID:26619011
NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
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Cxcl8
C-X-C motif chemokine ligand 8
severity
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:31423201
RGD:150520019
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression
ISO
protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:17171785
RGD:152023646
NCBI chrNW_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109
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Dab2ip
DAB2 interacting protein
severity
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:30464518
RGD:151665168
NCBI chrNW_004955419:6,229,437...6,416,619
Ensembl chrNW_004955419:6,228,591...6,416,402
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Dcc
DCC netrin 1 receptor
ISO
OMIM
NCBI chrNW_004955402:37,123,112...38,218,876
Ensembl chrNW_004955402:37,123,795...38,218,472
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Dido1
death inducer-obliterator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chrNW_004955528:1,153,181...1,207,346
Ensembl chrNW_004955528:1,162,836...1,207,596
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Dnmt3b
DNA methyltransferase 3 beta
disease_progression
ISO
protein:increased expression:nucleus:
RGD
PMID:22213175
RGD:9589085
NCBI chrNW_004955422:28,380,595...28,427,012
Ensembl chrNW_004955422:28,380,591...28,421,301
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Dpp4
dipeptidyl peptidase 4
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chrNW_004955449:11,795,994...11,873,408
Ensembl chrNW_004955449:11,795,536...11,875,412
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Efnb2
ephrin B2
severity exacerbates ameliorates
ISO
mRNA:increased expression:esophagus squamous epithelium (human) mRNA,protein:increased expression:esophagus squamous epithelium (human) human cells in mouse model
RGD
PMID:17611172 PMID:29190834 PMID:31885720
RGD:153300947 RGD:153300948 RGD:153300949
NCBI chrNW_004955404:5,000,906...5,030,068
Ensembl chrNW_004955404:5,000,906...5,030,126
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Egfr
epidermal growth factor receptor
severity
ISO
protein:increased expression:esophagus (human) ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
RGD ClinVar
PMID:10385363 PMID:23485129 PMID:25157968
RGD:5131486
NCBI chrNW_004955456:321,222...456,431
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Ehmt1
euchromatic histone lysine methyltransferase 1
disease_progression
ISO
protein:increased expression:esophagus mucosa: protein:increased expression:esophagus:
RGD
PMID:24649311 PMID:24805087
RGD:9589143 RGD:9590071
NCBI chrNW_004955513:5,491,446...5,642,559
Ensembl chrNW_004955513:5,547,313...5,641,499
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Ehmt2
euchromatic histone lysine methyltransferase 2
disease_progression
ISO
protein:increased expression:esophagus mucosa:
RGD
PMID:24805087
RGD:9590071
NCBI chrNW_004955437:396,736...411,144
Ensembl chrNW_004955437:396,742...411,144
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17965222 PMID:25151357
NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
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Epb41l3
erythrocyte membrane protein band 4.1 like 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chrNW_004955402:5,459,586...5,674,745
Ensembl chrNW_004955402:5,590,724...5,675,340
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Ephb4
EPH receptor B4
exacerbates
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chrNW_004955573:132,328...150,879
Ensembl chrNW_004955573:132,328...152,595
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression susceptibility
ISO
protein:altered localization:nucleus DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
RGD
PMID:18000820 PMID:24916311
RGD:126781764 RGD:126781765
NCBI chrNW_004955457:3,177,905...4,236,152
Ensembl chrNW_004955457:3,177,991...4,228,558
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
RGD
PMID:23263828
RGD:11252162
NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
RGD
PMID:21165554 PMID:25613619
RGD:126781697 RGD:126781701
NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235
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Fanca
FA complementation group A
ISO
DNA:missense mutation: :p.S858R (human)
RGD
PMID:21279724
RGD:11344913
NCBI chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052
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Fap
fibroblast activation protein alpha
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chrNW_004955449:11,623,838...11,694,256
Ensembl chrNW_004955449:11,623,741...11,694,335
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Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chrNW_004955506:1,063,002...1,079,939
Ensembl chrNW_004955506:1,063,002...1,079,939
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Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:esophagus squamous epithelium (human)
CTD RGD
PMID:24590895 PMID:25151357 PMID:29365412
RGD:151347630 RGD:151347646
NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211
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Fat2
FAT atypical cadherin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955408:5,944,236...6,033,776
Ensembl chrNW_004955408:5,941,800...6,033,878
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Fat3
FAT atypical cadherin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955414:1,467,087...2,083,914
Ensembl chrNW_004955414:1,472,067...1,962,265
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Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896
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Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955471:6,852,459...7,026,590
Ensembl chrNW_004955471:6,848,101...6,955,881
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Fes
FES proto-oncogene, tyrosine kinase
exacerbates
ISO
DNA:hypermethylation: (human)
RGD
PMID:24936140
RGD:153323298
NCBI chrNW_004955416:14,948,121...14,959,035
Ensembl chrNW_004955416:14,948,123...14,960,005
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Fgfr4
fibroblast growth factor receptor 4
treatment
ISO
RGD
PMID:25989802
RGD:150520041
NCBI chrNW_004955408:29,370,480...29,383,531
Ensembl chrNW_004955408:29,370,468...29,383,971
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Fkbp1a
FKBP prolyl isomerase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955596:580,106...606,210
Ensembl chrNW_004955596:580,106...603,255
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Foxa1
forkhead box A1
onset
ISO
DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human)
RGD
PMID:27050876 PMID:29788741
RGD:151665743 RGD:151665759
NCBI chrNW_004955409:23,598,127...23,599,827
Ensembl chrNW_004955409:23,598,127...23,599,461
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Fubp1
far upstream element binding protein 1
exacerbates
ISO
mRNA:increased expression:esophagus (human) protein:increased expression:esophagus (human)
RGD
PMID:26490982 PMID:32481602
RGD:151361192 RGD:151361197
NCBI chrNW_004955423:15,245,645...15,278,628
Ensembl chrNW_004955423:15,245,610...15,278,628
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Gdi2
GDP dissociation inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955421:22,449,620...22,480,721
Ensembl chrNW_004955421:22,450,402...22,480,512
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Glo1
glyoxalase I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955437:4,728,709...4,749,834
Ensembl chrNW_004955437:4,728,709...4,749,834
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929 PMID:30018730
RGD:151665494 RGD:151665741
NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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Grb7
growth factor receptor bound protein 7
exacerbates
ISO
protein:increased expression:esophagus (human) mRNA:increased expression:esophagus mucosa (human)
RGD
PMID:10797316 PMID:26465158
RGD:151347654 RGD:151347661
NCBI chrNW_004955451:14,463,032...14,470,392
Ensembl chrNW_004955451:14,464,541...14,474,070
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Gstp1
glutathione S-transferase pi 1
ISO
DNA:polymorphism: :p.I105V (human)
RGD
PMID:17916905
RGD:14700982
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17201171
NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
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Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
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Hmgn5
high mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28914995
NCBI chrNW_004955529:1,118,706...1,125,596
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Hoxb7
homeobox B7
severity
ISO
protein:increased expression:esophageal mucosa (human)
RGD
PMID:26076456
RGD:10402177
NCBI chrNW_004955451:12,630,276...12,634,641
Ensembl chrNW_004955451:12,630,276...12,634,634
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Hspa5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955419:3,055,420...3,060,208
Ensembl chrNW_004955419:3,055,420...3,062,131
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Htra1
HtrA serine peptidase 1
ameliorates exacerbates
ISO
human gene and cells in mouse model mRNA,protein:decreased expression:epithelium of esophagus (human)
RGD
PMID:23079781
RGD:152975633
NCBI chrNW_004955477:761,127...808,396
Ensembl chrNW_004955477:761,127...808,994
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
severity
ISO
human cells in mouse model
RGD
PMID:32367071
RGD:149735568
NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
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Jak2
Janus kinase 2
severity
ISO
protein:increased phosphorylation:esophagus squamous epithelium (human)
RGD
PMID:32158193
RGD:127285669
NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:19758438 PMID:30227324
RGD:151347669 RGD:151347672
NCBI chrNW_004955415:31,876,508...31,878,289
Ensembl chrNW_004955415:31,876,793...31,877,836
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Kat2b
lysine acetyltransferase 2B
ISO
mRNA:decreased expression:esophagus (human)
RGD
PMID:19525977
RGD:9590307
NCBI chrNW_004955430:12,109,493...12,196,102
Ensembl chrNW_004955430:12,128,069...12,198,117
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Kdm4c
lysine demethylase 4C
susceptibility severity
ISO
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) protein:increased expression:esophageal epithelium, nucleus (human)
RGD
PMID:15805246 PMID:24224128
RGD:9587746 RGD:9587752
NCBI chrNW_004955434:10,646,524...11,000,589
Ensembl chrNW_004955434:10,685,704...11,000,644
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Kdm5b
lysine demethylase 5B
severity
ISO
protein:increased expression:esophageal mucosa, cytoplasm (human)
RGD
PMID:22534467
RGD:9587776
NCBI chrNW_004955406:38,755,220...38,823,094
Ensembl chrNW_004955406:38,755,220...38,823,088
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Kdm6a
lysine demethylase 6A
ameliorates
ISO
DNA:mutations:multiple (human) protein:increased expression:esophagus (human) mRNA:increased expression:esophagus (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:25151357 PMID:29351209 PMID:31804468
RGD:150429739 RGD:150429742 RGD:9588233
NCBI chrNW_004955516:3,151,350...3,346,832
Ensembl chrNW_004955516:3,149,948...3,346,832
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Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
CTD RGD
PMID:25151357
RGD:9588233
NCBI chrNW_004955491:6,245,408...6,420,535
Ensembl chrNW_004955491:6,247,249...6,402,470
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Kmt2d
lysine methyltransferase 2D
ISO
DNA:mutations:multiple (human) mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:25151357 PMID:29532228
RGD:150521712 RGD:9588233
NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
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Krt17
keratin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955451:15,940,137...15,944,392
G
Krt7
keratin 7
disease_progression
ISO
RGD
PMID:29788741
RGD:151665759
NCBI chrNW_004955547:2,584,425...2,598,770
Ensembl chrNW_004955547:2,533,377...2,598,833
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LOC102009223
cytochrome P450 1B1
ISO
protein:increased expression:esophagus (rat)
RGD
PMID:18618592
RGD:7829715
NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131
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LOC102010850
cytochrome P450 1A1
ISO
RGD
PMID:11860825
RGD:14700943
NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
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LOC102013768
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
susceptibility
ISO
DNA:SNP:CDS: (rs2296241) (human)
RGD
PMID:28362172
RGD:151665500
NCBI chrNW_004955445:4,874,583...4,891,723
Ensembl chrNW_004955445:4,873,942...4,891,780
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LOC102023166
cytochrome P450 26B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chrNW_004955424:13,336,189...13,355,368
Ensembl chrNW_004955424:13,336,189...13,355,423
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Loxl2
lysyl oxidase like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24716982
NCBI chrNW_004955403:46,503,226...46,583,807
Ensembl chrNW_004955403:46,504,440...46,584,016
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Lta
lymphotoxin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
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Lzts1
leucine zipper tumor suppressor 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition
OMIM ClinVar
PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532
NCBI chrNW_004955403:43,909,722...43,962,965
Ensembl chrNW_004955403:43,909,681...43,962,971
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Mad2l1
mitotic arrest deficient 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chrNW_004955428:20,421,718...20,443,394
Ensembl chrNW_004955428:20,421,723...20,430,307
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Map3k1
mitogen-activated protein kinase kinase kinase 1
sexual_dimorphism
ISO
DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human)
RGD
PMID:32753933
RGD:150573717
NCBI chrNW_004955446:11,022,091...11,090,136
Ensembl chrNW_004955446:11,021,971...11,090,136
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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 chrNW_004955429:17,858,656...17,868,111
Ensembl chrNW_004955429:17,858,937...17,869,262
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Mgmt
O-6-methylguanine-DNA methyltransferase
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD RGD
PMID:21674174 PMID:25520135
RGD:126790574
NCBI chrNW_004955477:7,103,035...7,375,073
Ensembl chrNW_004955477:7,102,977...7,376,530
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Mlh1
mutL homolog 1
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
RGD
PMID:21674174
RGD:126790574
NCBI chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526
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Mmp14
matrix metallopeptidase 14
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Msh2
mutS homolog 2
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, esophagus DNA, protein:hypermethylation, decreased expression:esophagus
RGD
PMID:21674174 PMID:22265839 PMID:24366688
RGD:126790560 RGD:126790573 RGD:126790574
NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173
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Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955495:8,012,370...8,048,616
Ensembl chrNW_004955495:8,012,502...8,047,710
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Pagr1
PAXIP1 associated glutamate rich protein 1
ISO
mRNA, protein:decreased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
NCBI chrNW_004955493:7,142,048...7,144,836
Ensembl chrNW_004955493:7,142,272...7,144,389
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Pbx3
PBX homeobox 3
ISO
RNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32449803
RGD:153345544
NCBI chrNW_004955419:2,419,081...2,624,299
Ensembl chrNW_004955419:2,419,029...2,627,607
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Pfn1
profilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955467:10,357,838...10,360,651
Ensembl chrNW_004955467:10,357,838...10,360,651
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Plce1
phospholipase C epsilon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729852 PMID:20729853
NCBI chrNW_004955507:555,570...825,568
Ensembl chrNW_004955507:555,499...825,568
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Prdx1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955464:12,761,390...12,773,413
Ensembl chrNW_004955464:12,761,401...12,773,146
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Psmb9
proteasome 20S subunit beta 9
disease_progression
ISO
RGD
PMID:19492245
RGD:6482249
NCBI chrNW_004955437:1,513,425...1,516,164
Ensembl chrNW_004955437:1,513,418...1,516,164
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Psme1
proteasome activator subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955409:36,262,114...36,264,996
Ensembl chrNW_004955409:36,262,114...36,264,994
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Psme2
proteasome activator subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955409:36,252,847...36,257,021
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Ptch1
patched 1
disease_progression
ISO
RGD
PMID:16475698
RGD:150523841
NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15756444 PMID:16543248 PMID:18197933
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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Ptprt
protein tyrosine phosphatase receptor type T
susceptibility
ISO
DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human)
RGD
PMID:25967969
RGD:150520191
NCBI chrNW_004955445:14,185,751...14,961,000
Ensembl chrNW_004955445:14,185,732...14,952,980
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
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Rictor
RPTOR independent companion of MTOR complex 2
disease_progression severity
ISO
human cells in mouse model protein:increased expression:esophagus (human)
RGD
PMID:28132115 PMID:30119206 PMID:32642408
RGD:152995460 RGD:152995470 RGD:152995512
NCBI chrNW_004955426:23,468,112...23,582,587
Ensembl chrNW_004955426:23,468,112...23,582,587
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Rnf6
ring finger protein 6
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
ClinVar OMIM
PMID:12154016
NCBI chrNW_004955497:5,744,485...5,754,728
Ensembl chrNW_004955497:5,744,157...5,754,728
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Runx2
RUNX family transcription factor 2
ISO
mRNA:increased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chrNW_004955437:10,598,145...10,885,858
Ensembl chrNW_004955437:10,598,145...10,800,560
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Runx3
RUNX family transcription factor 3
disease_progression
ISO
mRNA:decreased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chrNW_004955452:4,580,444...4,606,820
Ensembl chrNW_004955452:4,579,331...4,636,884
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Sall4
spalt like transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chrNW_004955445:6,824,797...6,841,141
Ensembl chrNW_004955445:6,824,770...6,842,187
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Setd5
SET domain containing 5
disease_progression
ISO
RGD
PMID:31981592
RGD:155804254
NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691
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Sfn
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955452:6,217,519...6,218,481
Ensembl chrNW_004955452:6,217,698...6,218,444
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Slc16a10
solute carrier family 16 member 10
ISO
protein:increased expression:esophagus
RGD
PMID:33609949
RGD:151361149
NCBI chrNW_004955411:35,758,612...35,871,179
Ensembl chrNW_004955411:35,758,612...35,871,164
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Slc1a5
solute carrier family 1 member 5
disease_progression
ISO
protein:increased expression:esophagus
RGD
PMID:26936531 PMID:33609949
RGD:11532833 RGD:151361149
NCBI chrNW_004955574:798,004...806,631
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Slc39a6
solute carrier family 39 member 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23644492
NCBI chrNW_004955402:22,670,598...22,698,455
Ensembl chrNW_004955402:22,670,437...22,698,591
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Slc52a3
solute carrier family 52 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729853
NCBI chrNW_004955596:48,463...60,239
Ensembl chrNW_004955596:47,108...60,239
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
protein:increased expression:esophagus
RGD
PMID:26936531 PMID:31726270 PMID:33609949
RGD:11532833 RGD:151361144 RGD:151361149
NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310
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Socs1
suppressor of cytokine signaling 1
severity treatment
ISO
mRNA:decreased expression:esophagus
RGD
PMID:21385099 PMID:28233302 PMID:31728180
RGD:150573691 RGD:150573812 RGD:150573815
NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18167182 PMID:21517111
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Sox2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19801978
NCBI chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934
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Spen
spen family transcriptional repressor
ISO
associated with Neoplasm Metastasis; DNA:mutations
RGD
PMID:33363385
RGD:151347445
NCBI chrNW_004955527:2,279,438...2,343,263
Ensembl chrNW_004955527:2,280,459...2,343,262
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Stim1
stromal interaction molecule 1
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:31843504
RGD:152995393
NCBI chrNW_004955414:19,652,990...19,849,353
Ensembl chrNW_004955414:19,652,990...19,847,964
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448
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Tagln
transgelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955412:18,523,469...18,529,285
Ensembl chrNW_004955412:18,523,469...18,529,285
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chrNW_004955437:1,504,549...1,511,110
Ensembl chrNW_004955437:1,504,947...1,511,097
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575
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Tcn2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chrNW_004955455:4,827,030...4,849,810
Ensembl chrNW_004955455:4,826,694...4,849,613
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Tert
telomerase reverse transcriptase
susceptibility no_association
ISO
DNA:SNPs: : rs2853691,rs2736100(human) mRNA:increased expression:esophagus squamous epithelium: DNA:SNP: :rs2736098(human)
RGD
PMID:15112252 PMID:25007268 PMID:26716642
RGD:11572962 RGD:150530488 RGD:152977757
NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
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Tet2
tet methylcytosine dioxygenase 2
severity
ISO
mRNA:decreased expression:esophagus squamous epithelium (human) DNA:mutations associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:26093090 PMID:26873401 PMID:27050164
RGD:11528815 RGD:150429656 RGD:150429668
NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106
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Tet3
tet methylcytosine dioxygenase 3
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:27050164
RGD:150429668
NCBI chrNW_004955424:11,612,124...11,722,130
Ensembl chrNW_004955424:11,617,993...11,714,203
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Tgfbr2
transforming growth factor beta receptor 2
ISO
OMIM
NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837
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Tnfaip3
TNF alpha induced protein 3
severity
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:28197630
RGD:151347617
NCBI chrNW_004955436:21,566,591...21,581,551
Ensembl chrNW_004955436:21,566,423...21,578,469
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Tnfaip8
TNF alpha induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21969086
NCBI chrNW_004955408:38,872,305...38,986,932
Ensembl chrNW_004955408:38,872,007...38,990,650
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Tnxb
tenascin XB
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chrNW_004955437:516,713...561,188
Ensembl chrNW_004955437:511,963...553,856
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD RGD
PMID:16543248 PMID:25151357 PMID:28789369
RGD:14995932
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Tpi1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
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Tpm1
tropomyosin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011
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Tpm2
tropomyosin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955472:611,079...617,823
Ensembl chrNW_004955472:611,028...617,821
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Txndc17
thioredoxin domain containing 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chrNW_004955467:12,144,928...12,146,999
Ensembl chrNW_004955467:12,144,928...12,146,999
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Tymp
thymidine phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11641616
NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748
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Usp8
ubiquitin specific peptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35022897
NCBI chrNW_004955409:3,839,308...3,903,595
Ensembl chrNW_004955409:3,840,007...3,891,284
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Ventx
VENT homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chrNW_004955477:10,945,539...10,948,735
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Wrap53
WD repeat containing antisense to TP53
disease_progression
ISO
RGD
PMID:24626331
RGD:21081532
NCBI chrNW_004955467:9,225,506...9,240,756
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Wwox
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
ClinVar OMIM
PMID:11956080 PMID:28492532
NCBI chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562
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Xpo1
exportin 1
exacerbates
ISO
mRNA, protein:increased expression:epithelium of esophagus (human) protein:increased expression:esophagus (human)
RGD
PMID:24898882 PMID:25148895
RGD:151667431 RGD:151667436
NCBI chrNW_004955424:22,370,006...22,420,568
Ensembl chrNW_004955424:22,370,006...22,420,568
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Xrcc1
X-ray repair cross complementing 1
susceptibility no_association treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs,haplotypes:multiple (human) DNA:missense mutation:cds: p.R399Q (human) DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)
CTD RGD
PMID:11400117 PMID:16639733 PMID:25710005 PMID:27123143 PMID:28356949
RGD:150530501 RGD:150530505 RGD:150530634 RGD:151347444
NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
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Zcchc12
zinc finger CCHC-type containing 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chrNW_004955534:1,131,585...1,133,382
Ensembl chrNW_004955534:1,132,104...1,133,312
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Brunner Winter syndrome | ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome
ClinVar
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 PMID:21224895 PMID:25741868 PMID:28492532 PMID:30573562 PMID:30655312 PMID:33442900 PMID:36474027 More...
NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: MYCN-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961
NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818
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Abat
4-aminobutyrate aminotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21552517
NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
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Actl6a
actin like 6A
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chrNW_004955420:8,745,390...8,764,993
Ensembl chrNW_004955420:8,744,597...8,764,993
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Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:esophagus (human)
RGD
PMID:17900656
RGD:11081162
NCBI chrNW_004955456:14,554,583...14,558,967
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18193101 PMID:20616304
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Gmppa
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:24035193
NCBI chrNW_004955453:13,967,118...13,974,351
Ensembl chrNW_004955453:13,965,174...13,974,789
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21451212
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036
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Tac1
tachykinin precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20616304
NCBI chrNW_004955432:13,991,647...13,999,665
Ensembl chrNW_004955432:13,991,414...13,999,728
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Tlr2
toll like receptor 2
ISO
protein:decreased expression:sputum, macrophage
RGD
PMID:21426732
RGD:7240539
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tp63
tumor protein p63
ISO
OMIM:109350
MouseDO
NCBI chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786
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Znf469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:25741868
NCBI chrNW_004955541:2,404,549...2,438,183
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Rfx6
regulatory factor X6
ISO
ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA
ClinVar
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 PMID:25741868 PMID:26264437 PMID:26559129 PMID:27523286 PMID:28492532 PMID:29026101 More...
NCBI chrNW_004955436:213,810...278,699
Ensembl chrNW_004955436:213,809...280,577
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia
OMIM ClinVar
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532
NCBI chrNW_004955471:11,367,318...11,422,199
Ensembl chrNW_004955471:11,367,282...11,424,273
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Rad21
RAD21 cohesin complex component
ISO
ClinVar Annotator: match by term: Mungan syndrome
OMIM ClinVar
PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532
NCBI chrNW_004955417:22,941,549...22,966,395
Ensembl chrNW_004955417:22,941,479...22,966,837
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Rhbdf2
rhomboid 5 homolog 2
ISO
ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER | ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome | ClinVar Annotator: match by term: Tylosis with esophageal cancer
OMIM ClinVar
PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004955506:5,805,415...5,828,286
Ensembl chrNW_004955506:5,805,361...5,828,460
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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
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Ccl5
C-C motif chemokine ligand 5
ISO
associated with Asthma;mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
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Cldn4
claudin 4
ISO
protein:altered localization:esophagus epithelium, cytoplasm
RGD
PMID:16143882
RGD:2317602
NCBI chrNW_004955456:13,961,743...13,965,498
Ensembl chrNW_004955456:13,962,497...13,963,126
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18193101
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Egfr
epidermal growth factor receptor
ISO
mRNA, protein:increased expression:esophagus, basal cell
RGD
PMID:11966524
RGD:10395244
NCBI chrNW_004955456:321,222...456,431
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F11r
F11 receptor
treatment
ISO
RGD
PMID:19478094
RGD:7488941
NCBI chrNW_004955468:12,764,968...12,785,956
Ensembl chrNW_004955468:12,765,874...12,785,929
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Il13
interleukin 13
ISO
associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid
RGD
PMID:18222984
RGD:2307110
NCBI chrNW_004955408:4,046,406...4,049,795
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Il5
interleukin 5
ISO
associated with asthma; mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
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Psmb9
proteasome 20S subunit beta 9
ISO
protein:decreased expression:esophageal epithelium (rat)
RGD
PMID:23942904
RGD:9854630
NCBI chrNW_004955437:1,513,425...1,516,164
Ensembl chrNW_004955437:1,513,418...1,516,164
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Ptges
prostaglandin E synthase
ISO
protein:increased expression:esophagus
RGD
PMID:16210398
RGD:2300085
NCBI chrNW_004955445:10,053,745...10,056,981
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Tjp1
tight junction protein 1
ISO
RGD
PMID:19653339
RGD:2325133
NCBI chrNW_004955416:28,640,807...28,869,717
Ensembl chrNW_004955416:28,654,905...28,870,555
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Tnf
tumor necrosis factor
ISO
RGD
PMID:15942680
RGD:1580209
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:25910066
RGD:11055189
NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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Actl6a
actin like 6A
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chrNW_004955420:8,745,390...8,764,993
Ensembl chrNW_004955420:8,744,597...8,764,993
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Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chrNW_004955420:9,689,076...9,727,806
Ensembl chrNW_004955420:9,690,295...9,727,835
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CUNH14orf39
chromosome unknown C14orf39 homolog
ISO
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955466:9,158,022...9,194,088
Ensembl chrNW_004955466:9,157,944...9,195,226
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Dnajc19
DnaJ heat shock protein family (Hsp40) member C19
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359 PMID:17522144 PMID:19921648 PMID:22382802 PMID:23701296 PMID:24804704 PMID:28492532 More...
NCBI chrNW_004955420:9,974,466...9,978,789
Ensembl chrNW_004955420:9,953,045...9,978,789
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Fxr1
FMR1 autosomal homolog 1
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chrNW_004955420:9,903,736...9,966,100
Ensembl chrNW_004955420:9,903,736...9,966,100
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Mrpl47
mitochondrial ribosomal protein L47
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chrNW_004955420:8,765,131...8,778,172
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Ndufb5
NADH:ubiquinone oxidoreductase subunit B5
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chrNW_004955420:8,778,271...8,793,634
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Pex5l
peroxisomal biogenesis factor 5 like
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chrNW_004955420:8,924,399...9,146,309
Ensembl chrNW_004955420:8,930,992...9,146,215
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Six6
SIX homeobox 6
ISO
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109
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Sox2
SRY-box transcription factor 2
ISO
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
OMIM ClinVar
PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 PMID:16145681 PMID:16283891 PMID:16470798 PMID:16543359 PMID:16712695 PMID:16892407 PMID:16932809 PMID:17219395 PMID:17522144 PMID:18285410 PMID:18385377 PMID:18385794 PMID:18831064 PMID:19254784 PMID:19921648 PMID:20803647 PMID:21326281 PMID:22171155 PMID:22382802 PMID:22421044 PMID:23701296 PMID:24498598 PMID:24804704 PMID:25542770 PMID:25741868 PMID:26250054 PMID:26938784 PMID:27206652 PMID:27427475 PMID:28121235 PMID:28492532 PMID:30450772 PMID:32870266 PMID:33914258 PMID:34367232 PMID:35885948 More...
NCBI chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934
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Ttc14
tetratricopeptide repeat domain 14
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chrNW_004955420:9,677,626...9,687,008
Ensembl chrNW_004955420:9,677,762...9,686,594
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Usp13
ubiquitin specific peptidase 13
ISO
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
PMID:16543359
NCBI chrNW_004955420:8,835,858...8,919,837
Ensembl chrNW_004955420:8,835,549...8,919,933
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Add1
adducin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955514:1,784,302...1,812,845
Ensembl chrNW_004955514:1,783,814...1,815,917
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Amer3
APC membrane recruitment protein 3
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955459:267,754...277,422
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Ap1g2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955409:36,795,351...36,803,605
Ensembl chrNW_004955409:36,795,358...36,803,605
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Apc2
APC regulator of WNT signaling pathway 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955495:6,466,434...6,489,612
Ensembl chrNW_004955495:6,467,357...6,489,633
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Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:16818050
RGD:2289003
NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
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Brca2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 PMID:9667259 PMID:9792861 PMID:10638982 PMID:11307153 PMID:11802209 PMID:11897832 PMID:15382066 PMID:16683254 PMID:16905680 PMID:17011978 PMID:17148771 PMID:17576681 PMID:17924331 PMID:18375895 PMID:18821011 PMID:19016756 PMID:19656164 PMID:19863560 PMID:20104584 PMID:20406929 PMID:20694749 PMID:21324516 PMID:21990134 PMID:22217648 PMID:22505045 PMID:22632462 PMID:22798144 PMID:22923021 PMID:23035815 PMID:23199084 PMID:23318356 PMID:23451180 PMID:23621881 PMID:24033266 PMID:24156927 PMID:24249303 PMID:25186627 PMID:25382762 PMID:25480878 PMID:25556971 PMID:25741868 PMID:25884701 PMID:25948282 PMID:26026974 PMID:26295337 PMID:26425718 PMID:26467025 PMID:26786923 PMID:27000661 PMID:27060066 PMID:27271530 PMID:27741520 PMID:28008555 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28715532 PMID:28724667 PMID:28825054 PMID:29084914 PMID:29176636 PMID:29446198 PMID:29625052 PMID:29907814 PMID:30274973 PMID:30287823 PMID:30702160 PMID:30787465 PMID:31143373 PMID:31360904 PMID:31447099 PMID:31825140 PMID:31843900 PMID:32300229 PMID:32338768 PMID:32393398 PMID:32658311 PMID:32772980 PMID:32853339 PMID:32885271 PMID:33471991 PMID:34298626 PMID:35714671 PMID:35949895 PMID:36988593 More...
NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
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Celsr2
cadherin EGF LAG seven-pass G-type receptor 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955435:12,671,759...12,695,070
Ensembl chrNW_004955435:12,671,759...12,695,564
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Eftud2
elongation factor Tu GTP binding domain containing 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955451:17,655,659...17,690,117
Ensembl chrNW_004955451:17,653,125...17,690,117
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Fgfr2
fibroblast growth factor receptor 2
ISO
associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat)
RGD
PMID:15065023
RGD:12801427
NCBI chrNW_004955551:2,321,190...2,427,000
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Gart
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863
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Gls
glutaminase
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955403:8,195,241...8,261,402
Ensembl chrNW_004955403:8,195,255...8,261,402
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Gtf3c1
general transcription factor IIIC subunit 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955493:5,651,841...5,724,426
Ensembl chrNW_004955493:5,651,841...5,724,426
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Irf8
interferon regulatory factor 8
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106
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Itsn1
intersectin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955407:33,056,004...33,275,681
Ensembl chrNW_004955407:33,113,319...33,275,675
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Klhl17
kelch like family member 17
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955486:9,745,162...9,750,874
Ensembl chrNW_004955486:9,745,162...9,750,874
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Lurap1l
leucine rich adaptor protein 1 like
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955434:15,995,549...16,035,055
Ensembl chrNW_004955434:15,995,549...16,035,055
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Pcdh1
protocadherin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955415:11,916,095...11,934,658
Ensembl chrNW_004955415:11,916,092...11,934,658
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chrNW_004955512:2,914,834...3,333,440
Ensembl chrNW_004955512:2,917,243...3,333,688
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Pik3c2g
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955413:14,454,376...14,764,323
Ensembl chrNW_004955413:14,454,377...14,764,558
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Polr2b
RNA polymerase II subunit B
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955447:14,110,182...14,150,556
Ensembl chrNW_004955447:14,110,182...14,150,556
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Ptpn14
protein tyrosine phosphatase non-receptor type 14
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955406:3,368,833...3,463,170
Ensembl chrNW_004955406:3,368,694...3,456,437
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955520:3,411,504...3,483,703
Ensembl chrNW_004955520:3,411,770...3,483,413
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Sclt1
sodium channel and clathrin linker 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:25741868 PMID:28492532 PMID:36135330 PMID:36474027
NCBI chrNW_004955428:12,583,203...12,753,577
Ensembl chrNW_004955428:12,583,699...12,753,274
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Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955450:9,005,332...9,070,790
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Tecpr1
tectonin beta-propeller repeat containing 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955460:14,106,711...14,137,983
Ensembl chrNW_004955460:14,106,711...14,138,033
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Tlr9
toll like receptor 9
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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Wdfy3
WD repeat and FYVE domain containing 3
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004955474:4,764,902...5,045,421
Ensembl chrNW_004955474:4,870,835...5,042,310
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Aaas
aladin WD repeat nucleoporin
ISO
ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia
OMIM ClinVar
PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 PMID:12548737 PMID:12700313 PMID:12730363 PMID:12752575 PMID:14646395 PMID:15173230 PMID:15516781 PMID:15666842 PMID:15690314 PMID:16098009 PMID:16199547 PMID:16609705 PMID:16938764 PMID:18172684 PMID:18261130 PMID:18414213 PMID:18615337 PMID:18628786 PMID:20674935 PMID:22538409 PMID:22824007 PMID:25741868 PMID:26243364 PMID:26595337 PMID:27133709 PMID:27618595 PMID:28492532 PMID:29180348 PMID:29255950 PMID:29383495 PMID:29874194 PMID:30069287 PMID:30381913 PMID:30455725 PMID:31600784 PMID:31937715 PMID:32146693 PMID:32700293 PMID:35570467 More...
NCBI chrNW_004955458:567,487...577,228
Ensembl chrNW_004955458:567,518...577,372
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Myg1
MYG1 exonuclease
ISO
ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia
ClinVar
NCBI chrNW_004955458:560,033...567,102
Ensembl chrNW_004955458:560,207...567,081
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Cplane2
ciliogenesis and planar polarity effector complex subunit 2
ISO
OMIM:192350 | OMIM:276950
MouseDO
NCBI chrNW_004955527:2,060,063...2,064,152
Ensembl chrNW_004955527:2,060,063...2,064,152
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
OMIM:192350 | OMIM:276950
MouseDO
NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468
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Fancl
FA complementation group L
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532
NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180
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Fn1
fibronectin 1
ISO
protein:increased expression:embryo
RGD
PMID:14986037
RGD:7205466
NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975
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Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:2629409 PMID:26294094
NCBI chrNW_004955541:1,341,715...1,345,397
Ensembl chrNW_004955541:1,317,114...1,346,590
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Gli2
GLI family zinc finger 2
ISO
RGD
PMID:11172440
RGD:155791680
NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499
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Gli3
GLI family zinc finger 3
ISO
RGD
PMID:11172440
RGD:155791680
NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918
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Hoxd13
homeobox D13
ISO
ClinVar Annotator: match by term: VACTERL association
ClinVar
PMID:19006232
NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579
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Ift172
intraflagellar transport 172
ISO
OMIM:192350 | OMIM:276950
MouseDO
NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism OMIM:192350 | OMIM:276950 DNA:mutation:exon:p.C470R(mouse)
CTD MouseDO RGD
PMID:18519639
RGD:11556208
NCBI chrNW_004955512:2,914,834...3,333,440
Ensembl chrNW_004955512:2,917,243...3,333,688
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Qsox1
quiescin sulfhydryl oxidase 1
ISO
OMIM:192350 | OMIM:276950
MouseDO
NCBI chrNW_004955406:19,363,938...19,402,134
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:12632369
RGD:12801426
NCBI chrNW_004955491:8,647,133...8,657,381
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Tbc1d32
TBC1 domain family member 32
ISO
OMIM:192350 | OMIM:276950
MouseDO
NCBI chrNW_004955436:3,385,216...3,542,497
Ensembl chrNW_004955436:3,386,180...3,540,933
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Trap1
TNF receptor associated protein 1
ISO
ClinVar Annotator: match by term: VACTERL association
ClinVar
PMID:25741868
NCBI chrNW_004955442:13,697,471...13,733,161
Ensembl chrNW_004955442:13,696,810...13,733,161
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Baz1a
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations
ClinVar
NCBI chrNW_004955409:26,136,961...26,231,960
Ensembl chrNW_004955409:26,149,665...26,231,180
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Fancb
FA complementation group B
ISO
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565
NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
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Fancl
FA complementation group L
ISO
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
ClinVar
PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 PMID:29625052 More...
NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
ClinVar
PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 PMID:18986487 PMID:19265751 PMID:20533527 PMID:21828076 PMID:22628360 PMID:23335809 PMID:24778394 PMID:25157968 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29706350 PMID:29874181 More...
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
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Sall1
spalt like transcription factor 1
ISO
ClinVar Annotator: match by term: VACTERL-H
ClinVar
PMID:25741868
NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171
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Zic3
Zic family member 3
ISO
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
OMIM ClinVar
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 PMID:32753700 More...
NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all