esophageal disease - Ontology Report

PMID:19566590

NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513

achalasia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Aaas

aladin WD repeat nucleoporin

susceptibility

ISO

PMID:16098009 PMID:16098009

RGD:1598514, RGD:1598514

NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961

Lmna

lamin A/C

ISS

OMIM:200400

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

Nos1

nitric oxide synthase 1

ISS

OMIM:200400

PMID:24997987 PMID:11837716

NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945

RT1-Ba

RT1 class II, locus Ba

ISO

DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:5147806

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

RT1-Bb

RT1 class II, locus Bb

ISO

DNA:polymorphism (human)
DNA:SNP::rs28688207 (human)
DNA:polymorphism, haplotype
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24997987 PMID:11837716 PMID:30788115 PMID:30092016

RGD:5147806, RGD:14974238, RGD:14865011

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

Spry2

sprouty RTK signaling antagonist 2

ISS

OMIM:200400

NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009

Vipr1

vasoactive intestinal peptide receptor 1

onset

ISO

DNA:SNP:intron:rs437876 (human)

RGD

PMID:19309439

RGD:5685626

NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585

Achalasia-Progeroid Syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Bud13

BUD13 homolog

ISO

ClinVar Annotator: match by term: ACHALASIA-PROGEROID SYNDROME

PMID:35670808

NCBI chr 8:46,575,124...46,590,964
Ensembl chr 8:46,575,115...46,590,958

alacrima, achalasia, and impaired intellectual development syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Aamp

angio-associated, migratory cell protein

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547

Abcb6

ATP binding cassette subfamily B member 6

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924

Ankzf1

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469

Arpc2

actin related protein 2/3 complex, subunit 2

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471

Asic4

acid sensing ion channel subunit family member 4

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900

Atg9a

autophagy related 9A

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986

Bcs1l

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938

Catip

ciliogenesis associated TTC17 interacting protein

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607

Cdk5r2

cyclin-dependent kinase 5 regulatory subunit 2

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344

Cfap65

cilia and flagella associated protein 65

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128

Chpf

chondroitin polymerizing factor

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878

Cnot9

CCR4-NOT transcription complex subunit 9

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100

Cnppd1

cyclin Pas1/PHO80 domain containing 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188

Cryba2

crystallin, beta A2

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460

Ctdsp1

CTD small phosphatase 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297

Cxcr1

C-X-C motif chemokine receptor 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084

Cxcr2

C-X-C motif chemokine receptor 2

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

Cyp27a1

cytochrome P450, family 27, subfamily a, polypeptide 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

Des

desmin

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

Dnajb2

DnaJ heat shock protein family (Hsp40) member B2

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277

Dnpep

aspartyl aminopeptidase

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716

Fev

FEV transcription factor, ETS family member

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065

Glb1l

galactosidase, beta 1-like

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510

Gmppa

GDP-mannose pyrophosphorylase A

ISO
ISS

ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
OMIM:615510

OMIM
ClinVar
MouseDO

PMID:24035193 PMID:25741868 PMID:27717089 PMID:28492532 PMID:28574218 More...

NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269

Gpbar1

G protein-coupled bile acid receptor 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168

Ihh

Indian hedgehog signaling molecule

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532

Mir26b

microRNA 26b

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680

Mir375

microRNA 375

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985

Nhej1

nonhomologous end-joining factor 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444

Obsl1

obscurin like cytoskeletal adaptor 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560

Plcd4

phospholipase C, delta 4

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453

Pnkd

PNKD metallo-beta-lactamase domain containing

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124

Prkag3

protein kinase AMP-activated non-catalytic subunit gamma 3

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959

Ptprn

protein tyrosine phosphatase, receptor type, N

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190

Resp18

regulated endocrine-specific protein 18

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722

Retreg2

reticulophagy regulator family member 2

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395

Rnf25

ring finger protein 25

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:83,619,148...83,626,020
Ensembl chr 9:76,170,037...76,176,849

Slc11a1

solute carrier family 11 member 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101

Slc23a3

solute carrier family 23, member 3

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366

Speg

striated muscle enriched protein kinase

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144

Stk16

serine/threonine kinase 16

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855

Stk36

serine/threonine kinase 36

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422

Tmbim1

transmembrane BAX inhibitor motif containing 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069

Tmem198

transmembrane protein 198

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011

Ttll4

tubulin tyrosine ligase like 4

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301

Tuba4a

tubulin, alpha 4A

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918

Usp37

ubiquitin specific peptidase 37

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044

Vil1

villin 1

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858

Wnt10a

Wnt family member 10A

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400

Wnt6

Wnt family member 6

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523

Zfand2b

zinc finger AN1-type containing 2B

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445

Zfp142

zinc finger protein 142

ISO

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856

Barrett's adenocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cyp26a1

cytochrome P450, family 26, subfamily a, polypeptide 1

ISO

RGD

PMID:18059332

RGD:13782259

NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204

PMID:16229808 PMID:18664505

glutathione peroxidase 3

ISO

DNA:hypermethylation
DNA:hypermethylation:promoter

RGD

RGD:151665354, RGD:151665749

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

Gpx7

glutathione peroxidase 7

ISO

DNA:hypermethylation:promoter

RGD

PMID:18664505

RGD:151665749

NCBI chr 5:123,145,151...123,153,141
Ensembl chr 5:123,144,331...123,153,004

Barrett's esophagus

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ascc1

activating signal cointegrator 1 complex subunit 1

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ASCC1-related condition | ClinVar Annotator: match by term: BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA | ClinVar Annotator: match by term: Barrett esophagus

OMIM
CTD
ClinVar

PMID:21791690 PMID:25741868 PMID:26924529 PMID:28218388 PMID:28492532 More...

NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272

B3gat2

beta-1,3-glucuronyltransferase 2

ISO

DNA:hypermethylation:esophageal squamous epithelium

RGD

PMID:26545406

RGD:11552890

NCBI chr 9:26,167,174...26,250,153
Ensembl chr 9:26,167,174...26,250,153

Becn1

beclin 1

disease_progression

IEP
ISO

RGD

PMID:22301112 PMID:22301112

RGD:11561943, RGD:11561943

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

PMID:17570215 PMID:17570215

bone morphogenetic protein 4

ISO
IEP

protein:increased expression:esophagus:

RGD

RGD:8699511, RGD:8699511

NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306

Cdh13

cadherin 13

ISO

CTD Direct Evidence: marker/mechanism

PMID:18729198

NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459

Cdkn1a

cyclin-dependent kinase inhibitor 1A

ISO

protein:increased expression:nucleus of esophagus mucosa:

RGD

PMID:11753681

RGD:8662398

NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585

Cdx2

caudal type homeo box 2

disease_progression

ISO

RGD

PMID:23011828

RGD:7349348

NCBI chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142

Cthrc1

collagen triple helix repeat containing 1

ISO

ClinVar Annotator: match by term: BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
CTD Direct Evidence: marker/mechanism

PMID:21791690

NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756

Cyp26a1

cytochrome P450, family 26, subfamily a, polypeptide 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:18059332

NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204

Fas

Fas cell surface death receptor

severity

ISO

RGD

PMID:10821489

RGD:12903968

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

Foxp1

forkhead box P1

ISO

DNA:snp:enhancer:g.70879779A>C (rs2687201) (human)

RGD

PMID:25447851

RGD:11560527

NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258

Gast

gastrin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,264,832...85,269,393
Ensembl chr10:85,264,832...85,267,496

Gata6

GATA binding protein 6

disease_progression

ISO

protein:increased expression: esophagus squamous epithelium (human)

RGD

PMID:25445407

RGD:13208870

NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532

glutathione peroxidase 3

ISO

DNA:hypermethylation:promoter

RGD

PMID:18664505

RGD:151665749

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

Gpx7

glutathione peroxidase 7

ISO

DNA:hypermethylation:promoter

RGD

PMID:18664505

RGD:151665749

NCBI chr 5:123,145,151...123,153,141
Ensembl chr 5:123,144,331...123,153,004

Hgf

hepatocyte growth factor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

Igfbp3

insulin-like growth factor binding protein 3

ISO

associated with Aneuploidy; protein:increased expression:serum:

RGD

PMID:18006928

RGD:12743582

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

Mcl1

MCL1 apoptosis regulator, BCL2 family member

ISO

CTD Direct Evidence: marker/mechanism

PMID:21127259

NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303

Mir145

microRNA 145

ISO

miRNA:increased expression:esophagus (human)

PMID:29906417

RGD:153344526

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

Mir196a2

microRNA 196a-2

ISO

miRNA:increased expression:esophagus (human)

PMID:29906417

RGD:153344526

NCBI chr 7:134,110,400...134,110,509
Ensembl chr 7:134,110,400...134,110,509

Mir223

microRNA 223

disease_progression

ISO

RGD

PMID:23757351

RGD:21408587

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

Mir30a

microRNA 30a

ISO

miRNA:increased expression:esophagus (human)

PMID:29906417

RGD:153344526

NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670

Mki67

marker of proliferation Ki-67

severity

ISO

RGD

PMID:22147251

RGD:6483521

NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762

Mmp1

matrix metallopeptidase 1

ISO

DNA:insertion:promoter:g.-1607insG rs1799750 (human)

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

Mmp12

matrix metallopeptidase 12

ISO

DNA:snp:promoter:g.-82A>G rs2276109 (human)

RGD

NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611

Msr1

macrophage scavenger receptor 1

ISO

ClinVar Annotator: match by term: BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA | ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: MSR1-related condition
CTD Direct Evidence: marker/mechanism

PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More...

NCBI chr16:52,717,775...52,803,602
Ensembl chr16:52,717,732...52,799,676

Muc2

mucin 2, oligomeric mucus/gel-forming

disease_progression

ISO

RGD

PMID:23011828

RGD:7349348

NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756

Nr1i2

nuclear receptor subfamily 1, group I, member 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:21977915

NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658

Pparg

peroxisome proliferator-activated receptor gamma

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

Ptges

prostaglandin E synthase

IEP

mRNA:increased expression:esophagus

RGD

PMID:14684572

RGD:2300107

NCBI chr 3:34,575,643...34,586,987

RGD:1642603, RGD:7349348, RGD:13207438

prostaglandin-endoperoxide synthase 2

disease_progression

IMP
ISO

CTD Direct Evidence: marker/mechanism
mRNA: increased expression: Esophagus

CTD
RGD

PMID:11059772 PMID:15387324 PMID:17244951 PMID:17675820 PMID:23011828 More...

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

Rela

RELA proto-oncogene, NF-kB subunit

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

Rprm

reprimo, TP53 dependent G2 arrest mediator homolog

ISO

CTD Direct Evidence: marker/mechanism

PMID:17121882

NCBI chr 3:38,539,581...38,540,998
Ensembl chr 3:38,539,581...38,540,998

Slc9a1

solute carrier family 9 member A1

ISO

CTD Direct Evidence: marker/mechanism

PMID:21127259

NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624

Smo

smoothened, frizzled class receptor

treatment

IMP

RGD

PMID:23108119

RGD:150340553

NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829

Sst

somatostatin

ISO

CTD Direct Evidence: marker/mechanism

PMID:17999418

NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173

Vdr

vitamin D receptor

susceptibility

ISO

DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)

RGD

PMID:25910066

RGD:11055189

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

Zfy1

zinc finger protein 1, Y-linked

ISO

DNA:hypermethylation:esophageal squamous epithelium

RGD

PMID:26545406

RGD:11552890

CREST syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cenpc

centromere protein C

ISO

associated with Anticentromere antibody positivity

RGD

PMID:25220385

RGD:27372886

NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476

Fbn1

fibrillin 1

ISO

RGD

PMID:10395706

RGD:12910471

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

Deglutition Disorders

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Megf10

multiple EGF-like domains 10

ISO

CTD Direct Evidence: marker/mechanism

PMID:22101682

NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456

Neb

nebulin

ISO

ClinVar Annotator: match by term: Dysphagia

PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532

NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574

Rif1

replication timing regulatory factor 1

ISO

ClinVar Annotator: match by term: Dysphagia

PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532

NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617

Slc6a3

solute carrier family 6 member 3

ISO

ClinVar Annotator: match by term: Dysphagia

NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413

Tamm41

TAM41 mitochondrial translocator assembly and maintenance homolog

ISO

ClinVar Annotator: match by term: Dysphagia

PMID:35321494

NCBI chr 4:148,070,388...148,103,728
Ensembl chr 4:148,018,463...148,103,694

Tsen2

tRNA splicing endonuclease subunit 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:18711368

NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215

Tsen34

tRNA splicing endonuclease subunit 34

ISO

CTD Direct Evidence: marker/mechanism

PMID:18711368

NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:65,517,330...65,524,412

Tsen54

tRNA splicing endonuclease subunit 54

ISO

CTD Direct Evidence: marker/mechanism

PMID:18711368

NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087

Uchl1

ubiquitin C-terminal hydrolase L1

ISO

DNA:deletion

RGD

PMID:11555633

RGD:1302546

NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590

Uchl3

ubiquitin C-terminal hydrolase L3

ISO

RGD

PMID:11555633

RGD:1302546

NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
Ensembl chr 3:78,485,315...78,527,355

early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Megf10

multiple EGF-like domains 10

ISO

ClinVar Annotator: match by term: MEGF10-related myopathy

PMID:18844613 PMID:24704289

PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 More...

NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456

eosinophilic esophagitis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ang

angiogenin

ISO

RGD

PMID:22331014

RGD:6771318

NCBI chr15:24,312,711...24,323,361

Ankrd27

ankyrin repeat domain 27

ISO

DNA:SNPs:intron: (rs3815700, rs10410895) (human)

RGD

PMID:25407941

RGD:11100048

NCBI chr 1:88,251,216...88,303,615
Ensembl chr 1:88,251,226...88,303,615

Ccl26

C-C motif chemokine ligand 26

treatment

ISO

protein:increased expression:esophagus (human)

RGD

RGD:11081156, RGD:11081157

NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335

Ccr3

C-C motif chemokine receptor 3

ISO

RGD

PMID:1316818

RGD:6893390

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

Cd40lg

CD40 ligand

ISO

protein:decreased expression:plasma

RGD

PMID:21211656

RGD:5490306

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

Cyp2c6

cytochrome P450, family 2, subfamily C, polypeptide 6

treatment

ISO

DNA:polymorphisms::

RGD

PMID:26416193

RGD:11352743

NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596

Il5

interleukin 5

ISO

RGD

PMID:23161496

RGD:11354947

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

Pecam1

platelet and endothelial cell adhesion molecule 1

ISO

protein:increased expression:esophagus (human)

RGD

PMID:22331014

RGD:6771318

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

Tgfb1

transforming growth factor, beta 1

ISO

RGD

PMID:24486052

RGD:11073602

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

Tslp

thymic stromal lymphopoietin

ISO

CTD Direct Evidence: marker/mechanism

PMID:20208534

NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548

esophageal atresia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ambra1

autophagy and beclin 1 regulator 1

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221

Atp1a3

ATPase Na+/K+ transporting subunit alpha 3

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918

Atp6v0a1

ATPase H+ transporting V0 subunit a1

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr10:85,935,802...85,989,901
Ensembl chr10:85,935,854...85,989,895

C2cd4a

C2 calcium-dependent domain containing 4A

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031

Cacna1c

calcium voltage-gated channel subunit alpha1 C

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648

Cdc27

cell division cycle 27

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr10:89,400,720...89,449,816
Ensembl chr10:89,400,940...89,449,736

Cmip

c-Maf-inducing protein

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709

Disp1

dispatched RND transporter family member 1

ISO

ClinVar Annotator: match by term: Esophageal atresia

PMID:25741868 PMID:36135330

NCBI chr13:94,720,928...94,866,695
Ensembl chr13:94,720,928...94,866,702

Drosha

drosha ribonuclease III

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 2:61,864,886...61,976,688
Ensembl chr 2:61,864,970...61,976,688

Dscam

DS cell adhesion molecule

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr11:35,921,924...36,507,100
Ensembl chr11:35,926,896...36,507,415

Dst

dystonin

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615

Eftud2

elongation factor Tu GTP binding domain containing 2

ISO

DNA:mutations:multiple (human)

RGD

PMID:23188108

RGD:10045556

NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079

Gabrg2

gamma-aminobutyric acid type A receptor subunit gamma 2

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346

glutathione S-transferase mu 1

ISO

DNA:deletion:: (human)

RGD

PMID:20740495

RGD:12792229

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

Hoxc4

homeo box C4

ISO

mRNA:decreased expression:lung (mouse)

RGD

PMID:17211587

RGD:10402180

NCBI chr 7:134,135,279...134,173,133
Ensembl chr 7:134,170,591...134,173,133

Igsf3

immunoglobulin superfamily, member 3

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 2:191,499,972...191,588,249
Ensembl chr 2:188,811,380...188,899,645

Insr

insulin receptor

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

Itgb1

integrin subunit beta 1

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr19:73,602,277...73,650,271
Ensembl chr19:56,705,171...56,753,195

Kcna6

potassium voltage-gated channel subfamily A member 6

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189

Mid2

midline 2

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr X:104,354,692...104,456,757
Ensembl chr X:104,355,316...104,453,473

Nags

N-acetylglutamate synthase

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr10:87,598,516...87,602,650
Ensembl chr10:87,098,330...87,102,465

Notch1

notch receptor 1

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

Pde4d

phosphodiesterase 4D

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884

Plk2

polo-like kinase 2

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 2:41,969,176...41,974,945
Ensembl chr 2:41,969,176...41,974,947

Rpgr

retinitis pigmentosa GTPase regulator

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882

Sipa1

signal-induced proliferation-associated 1

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591

Stat5a

signal transducer and activator of transcription 5A

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866

Tcf4

transcription factor 4

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425

Tenm2

teneurin transmembrane protein 2

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr10:20,480,662...21,706,415
Ensembl chr10:20,481,854...21,705,597

Tent5a

terminal nucleotidyltransferase 5A

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 8:86,222,294...86,229,045
Ensembl chr 8:86,225,357...86,229,045

Tert

telomerase reverse transcriptase

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

Wdr13

WD repeat domain 13

ISO

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727

esophageal atresia/tracheoesophageal fistula

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BRCA2, DNA repair associated

ISO

ClinVar Annotator: match by term: TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA

PMID:1772447 PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 More...

NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567

Gli2

GLI family zinc finger 2

IEP

RGD

PMID:12947339

RGD:12801415

NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574

Nog

noggin

ISO
ISS

OMIM:189960

MouseDO
RGD

PMID:17260385

RGD:12801454

NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339

Palb2

partner and localizer of BRCA2

ISO

ClinVar Annotator: match by term: TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA

PMID:17200668 PMID:23824750 PMID:25741868 PMID:26283626 PMID:26315354 More...

NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

Sclt1

sodium channel and clathrin linker 1

ISO

ClinVar Annotator: match by term: TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA

PMID:25741868 PMID:28492532 PMID:36135330 PMID:36474027

NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065

Shh

sonic hedgehog signaling molecule

IEP

RGD

PMID:25003913

RGD:12801416

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

esophageal cancer

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Akt1

AKT serine/threonine kinase 1

ISO

protein:increased expression:esophagus (human)

RGD

PMID:27188433

RGD:152995510

NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921

Aldh2

aldehyde dehydrogenase 2 family member

ISO

ClinVar Annotator: match by term: ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO

PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More...

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

Bhlhe41

basic helix-loop-helix family, member e41

ISO

protein:increased expression:esophagus(human)

RGD

PMID:29890466

RGD:151665308

NCBI chr 4:178,834,264...178,838,618
Ensembl chr 4:178,834,271...178,838,468

BRCA2, DNA repair associated

ISO

ClinVar Annotator: match by term: Esophagus cancer

PMID:25741868 PMID:28492532 PMID:31911673

NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567

Ctnna1

catenin alpha 1

disease_progression

IEP

RGD

PMID:9863006

RGD:2289811

NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910

Cxcl1

C-X-C motif chemokine ligand 1

IEP

protein:increased expression:serum

RGD

PMID:20232121

RGD:5134997

NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215

Cyp1a1

cytochrome P450, family 1, subfamily a, polypeptide 1

ISO

RGD

PMID:11833070 PMID:26782562

RGD:14700950, RGD:11554919

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

Cyp24a1

cytochrome P450, family 24, subfamily a, polypeptide 1

ameliorates

ISO

RNA:decreased expression:esophagus (human)

RGD

PMID:14760115

RGD:152025255

NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383

DCC netrin 1 receptor

ISO

ClinVar Annotator: match by term: Esophagus cancer

NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740

Dlec1

DLEC1 cilia and flagella associated protein

ISO

ClinVar Annotator: match by term: Esophagus cancer

PMID:25741868

NCBI chr 8:118,826,429...118,873,183
Ensembl chr 8:118,826,466...118,873,655

Fgf2

fibroblast growth factor 2

ISO

RGD

PMID:29660336

RGD:21409755

NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221

glutathione peroxidase 3

treatment

ISO

DNA:hypermethylation

RGD

PMID:33292587

RGD:151665781

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

PMID:11833070 PMID:23749488 PMID:12406553 PMID:26782562

glutathione S-transferase mu 1

ISO

RGD

RGD:14700950, RGD:14700969, RGD:14700964, RGD:11554919

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

glutathione S-transferase theta 1

ISO

RGD

PMID:23749488

RGD:14700969

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

Hmox1

heme oxygenase 1

IEP

protein:increased expression:esophagus

RGD

PMID:20498946

RGD:4145286

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

Il10

interleukin 10

treatment

ISO

RGD

PMID:26603620

RGD:152998997

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

Il1b

interleukin 1 beta

treatment

ISO

RGD

PMID:26603620

RGD:152998997

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

Il1r2

interleukin 1 receptor type 2

susceptibility

ISO

DNA:SNP:cds:rs11674595|rs2072472 (human)

RGD

PMID:31744444

RGD:152998961

NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725

Il5

interleukin 5

treatment

IEP

RGD

PMID:20232121

RGD:5134997

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

Lzts1

leucine zipper tumor suppressor 1

ISO

esophageal squamous cell carcinoma, OMIM:133239

RGD

PMID:10097140

RGD:1600104

NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203

Maf

MAF bZIP transcription factor

ISO

ClinVar Annotator: match by term: Esophagus cancer

PMID:27188433 PMID:22638884

NCBI chr19:60,259,200...60,622,145
Ensembl chr19:43,360,342...43,712,365

Mir155

microRNA 155

ISO

RGD

PMID:29660336

RGD:21409755

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

Mir21

microRNA 21

ISO

RNA:increased expression:esophagus (human)
RNA:increased expression:blood serum (human)

RGD

RGD:152995510, RGD:152998900

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

Mxi1

MAX interactor 1, dimerization protein

IAGP

RGD

PMID:10849326

RGD:1298988

NCBI chr 1:262,329,274...262,389,037
Ensembl chr 1:252,323,303...252,383,681

Myd88

MYD88, innate immune signal transduction adaptor

ISO

mRNA:splice variants:esophagus (human)

RGD

PMID:24527027

RGD:150519911

NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415

Pik3ca

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

ISO

protein:increased expression:esophagus (human)

RGD

PMID:27188433

RGD:152995510

NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032

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 chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838

Socs1

suppressor of cytokine signaling 1

ISO

mRNA,protein:decreased expression:esophagus:

RGD

PMID:33862112

RGD:151232285

NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383

Tgfbr2

transforming growth factor, beta receptor 2

ISO

ClinVar Annotator: match by term: Esophagus cancer

PMID:25354935 PMID:26598072

PMID:7664267 PMID:9395234 PMID:9536098 PMID:10789724 PMID:11212236 More...

NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228

Tnfaip3

TNF alpha induced protein 3

disease_progression
severity

ISO

DNA:SNP:intron 6: (rs610604) (human)
DNA:SNP:3'utr: (rs583522) (human)

RGD

RGD:151347597, RGD:11075880

NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282

tumor protein p53

ISO

ClinVar Annotator: match by term: Esophagus cancer

PMID:7887414 PMID:8023157 PMID:8118819 PMID:8164043 PMID:8825920 More...

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

Wwox

WW domain-containing oxidoreductase

ISO

ClinVar Annotator: match by term: Esophagus cancer

PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391

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 chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

esophageal carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Acod1

aconitate decarboxylase 1

ISO

mRNA:increased expression:esophagus (human)

RGD

PMID:37793345

RGD:596992333

NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529

Akt1

AKT serine/threonine kinase 1

severity

ISO

DNA:SNPs:introns: (rs3803304, rs1130214)

RGD

PMID:19164214

RGD:408345192

NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921

Birc7

baculoviral IAP repeat-containing 7

disease_progression

ISO

mRNA:increased expression:esophagus (human)

PMID:31964418

RGD:153344516

NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:168,047,824...168,052,606

BRCA2, DNA repair associated

ISO

ClinVar Annotator: match by term: Carcinoma of esophagus

PMID:17972177 PMID:18431501 PMID:18627636 PMID:18779604 PMID:21120943 More...

NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567

DCC netrin 1 receptor

ISO

ClinVar Annotator: match by term: Esophageal carcinoma, somatic

PMID:8187090

NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740

Fgfr2

fibroblast growth factor receptor 2

ISO

ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma

PMID:25157968 PMID:26619011

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

Grb7

growth factor receptor bound protein 7

exacerbates

ISO

mRNA:increased expression:esophagus mucosa (human)

RGD

PMID:8988034

RGD:151347660

NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052

Hras

HRas proto-oncogene, GTPase

ISO

ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

Htra1

HtrA serine peptidase 1

disease_progression

ISO

mRNA,protein:decreased expression:esophagus (human)

RGD

PMID:22935172

RGD:152985525

NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379

Jak2

Janus kinase 2

treatment

ISO

associated with Immune Deficiency Disease, human cells in mouse model

RGD

PMID:25724470

RGD:127285656

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

Lrrc56

leucine rich repeat containing 56

ISO

ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

Map2k7

mitogen activated protein kinase kinase 7

exacerbates

ISO

mRNA:decreased expression:espohagus (human)

RGD

PMID:32831056

RGD:155630592

NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222

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

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032

Slc7a5

solute carrier family 7 member 5

severity

ISO

RGD

PMID:15906366

RGD:151361282

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

Smad4

SMAD family member 4

ISO

ClinVar Annotator: match by term: Esophageal carcinoma

PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 More...

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

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 chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

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

PMID:124622 PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 More...

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

Esophageal Neoplasms

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abcb1a

ATP binding cassette subfamily B member 1A

ISO

CTD Direct Evidence: marker/mechanism

PMID:21332314

NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709

Abl1

ABL proto-oncogene 1, non-receptor tyrosine kinase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

Actb

actin, beta

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877

Adh7

alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide

ISO

CTD Direct Evidence: marker/mechanism

PMID:18500343

NCBI chr 2:226,748,724...226,763,183
Ensembl chr 2:226,741,788...226,763,182

Akap13

A-kinase anchoring protein 13

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:129,313,183...129,619,647
Ensembl chr 1:129,314,402...129,619,646

Aldh2

aldehyde dehydrogenase 2 family member

ISO

CTD Direct Evidence: marker/mechanism

PMID:8850269

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

Alox15

arachidonate 15-lipoxygenase

ISO

CTD Direct Evidence: marker/mechanism

PMID:11406566

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

Aqp3

aquaporin 3 (Gill blood group)

ISO

CTD Direct Evidence: marker/mechanism

PMID:21401805

NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720

Bax

BCL2 associated X, apoptosis regulator

ISO

CTD Direct Evidence: marker/mechanism

PMID:17634542

NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368

Bbc3

Bcl-2 binding component 3

ISO

CTD Direct Evidence: therapeutic

PMID:16481741

NCBI chr 1:86,141,450...86,150,666
Ensembl chr 1:77,014,543...77,022,509

Bcl2

BCL2, apoptosis regulator

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

Bcl2a1

BCL2-related protein A1

ISO

CTD Direct Evidence: marker/mechanism

PMID:17634542

NCBI chr 8:98,596,806...98,604,890
Ensembl chr 8:89,716,914...89,724,998

Bsg

basigin

ISO

CTD Direct Evidence: marker/mechanism

PMID:36574092

NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387

Casp8

caspase 8

ISO

CTD Direct Evidence: marker/mechanism

PMID:17450141 PMID:21472143

NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542

Ccnd1

cyclin D1

ISO

CTD Direct Evidence: marker/mechanism

PMID:12235107

NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602

Ccnh

cyclin H

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819

Cdh13

cadherin 13

ISO

CTD Direct Evidence: marker/mechanism

PMID:18410530 PMID:10969811

PMID:18729198

NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459

Cdkn1a

cyclin-dependent kinase inhibitor 1A

disease_progression

ISO

RGD

PMID:11903577

RGD:8662379

NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585

Cdkn2a

cyclin-dependent kinase inhibitor 2A

IEP
ISO

Protein:decreased expression:esophagus
CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1600828

NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

Cryab

crystallin, alpha B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:51,093,441...51,099,157

Csf3

colony stimulating factor 3

ISO

CTD Direct Evidence: therapeutic

PMID:7692001

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

Cxcl2

C-X-C motif chemokine ligand 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:21509778

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

Cyp19a1

cytochrome P450, family 19, subfamily a, polypeptide 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

Cyp26a1

cytochrome P450, family 26, subfamily a, polypeptide 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:18059332

NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204

DCC netrin 1 receptor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740

Egfr

epidermal growth factor receptor

ISO

CTD Direct Evidence: marker/mechanism

PMID:21298351 PMID:21468131 PMID:22042947

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

Eno1

enolase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336

Erbb2

erb-b2 receptor tyrosine kinase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:22042947

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

Fas

Fas cell surface death receptor

ISO

protein:decreased expression:esophageal mucosa:

RGD

PMID:9605741

RGD:11049151

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

Faslg

Fas ligand

ISO

protein:increased expression:esophageal mucosa:

RGD

PMID:9605741

RGD:11049151

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

Gapdh

glyceraldehyde-3-phosphate dehydrogenase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

Ghrl

ghrelin and obestatin prepropeptide

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621

Gng7

G protein subunit gamma 7

ISO

CTD Direct Evidence: marker/mechanism

PMID:18219292

NCBI chr 7:8,697,458...8,761,239
Ensembl chr 7:8,697,521...8,761,240

Grik2

glutamate ionotropic receptor kainate type subunit 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375

glutathione S-transferase theta 1

susceptibility

ISO

DNA:deletion: :

RGD

PMID:15526353

RGD:5490562

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

Kdr

kinase insert domain receptor

ISO

CTD Direct Evidence: marker/mechanism

PMID:21472143 PMID:35917945

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

Lgals3

galectin 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:17634542

NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025

Lzts1

leucine zipper tumor suppressor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203

Macir

macrophage immunometabolism regulator

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,420,760...98,440,818
Ensembl chr 9:98,420,376...98,441,733

Map3k3

mitogen activated protein kinase kinase kinase 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,020,174...91,088,852
Ensembl chr10:91,020,174...91,088,848

Marchf8

membrane associated ring-CH-type finger 8

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:151,086,076...151,203,205
Ensembl chr 4:149,416,071...149,530,770

Met

MET proto-oncogene, receptor tyrosine kinase

ISO

CTD Direct Evidence: marker/mechanism

PMID:22042947

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

Mir145

microRNA 145

ISO

CTD Direct Evidence: marker/mechanism

PMID:21248297

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

Mir200c

microRNA 200c

ISO

CTD Direct Evidence: marker/mechanism

PMID:21248297

NCBI chr 4:157,523,679...157,523,747

Mir21

microRNA 21

ISO

CTD Direct Evidence: marker/mechanism

PMID:21248297

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

Mir98

microRNA 98

ISO

CTD Direct Evidence: marker/mechanism

PMID:27270317

NCBI chr X:20,981,235...20,981,342
Ensembl chr X:20,981,235...20,981,342

Mlh3

mutL homolog 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:16981255

NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728

Mmp14

matrix metallopeptidase 14

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

Myc

MYC proto-oncogene, bHLH transcription factor

treatment

IDA

RGD

PMID:22844359

RGD:7207890

NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630

Nos2

nitric oxide synthase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:15264214

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

Nos3

nitric oxide synthase 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

Nr1i2

nuclear receptor subfamily 1, group I, member 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:21977915

NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658

Phb1

prohibitin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042

Prdx1

peroxiredoxin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856

Prdx2

peroxiredoxin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194

Ptgs1

prostaglandin-endoperoxide synthase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:12189197

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

PMID:11059772 PMID:16322294 PMID:17707579 PMID:16083713 PMID:22165968

prostaglandin-endoperoxide synthase 2

susceptibility

ISO
IEP

DNA:SNPs: :-1195A > G, -765G > C (human)
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:Esophagus

CTD
RGD

RGD:5135528, RGD:5687745

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

Rnf6

ring finger protein 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:13,929,160...13,940,663
Ensembl chr12:8,816,833...8,826,847

Rprm

reprimo, TP53 dependent G2 arrest mediator homolog

ISO

CTD Direct Evidence: marker/mechanism

PMID:17121882

NCBI chr 3:38,539,581...38,540,998
Ensembl chr 3:38,539,581...38,540,998

Runx3

RUNX family transcription factor 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:18058463

NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156

Serpinb3

serpin family B member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682

Sfn

stratifin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314

Slc30a7

solute carrier family 30 member 7

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132

Smyd2

SET and MYND domain containing 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:25825497

NCBI chr13:101,425,270...101,466,576
Ensembl chr13:101,425,273...101,466,576

Snai2

snail family transcriptional repressor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:99,686,934...99,690,349
Ensembl chr11:86,181,909...86,186,200

superoxide dismutase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:11053990 PMID:15986332

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

Sst

somatostatin

ISO

CTD Direct Evidence: marker/mechanism

PMID:17999418

NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173

Tgfbr2

transforming growth factor, beta receptor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:10789724

NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228

Tgm2

transglutaminase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:167,192,612...167,221,845
Ensembl chr 3:146,772,687...146,801,981

Tnfrsf10b

TNF receptor superfamily member 10b

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

PMID:12706858 PMID:17634542 PMID:26192916 PMID:16778087 PMID:26439224

tumor protein p53

ISO
IEP

CTD Direct Evidence: marker/mechanism
protein:increased expression:esophageal mucosa:

CTD
RGD

RGD:8547873, RGD:11075085

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

Tpm1

tropomyosin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:76,516,654...76,543,661
Ensembl chr 8:67,635,479...67,662,802

Tpm4

tropomyosin 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984

Trmt11

tRNA methyltransferase 11 homolog

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:27,054,437...27,109,765
Ensembl chr 1:27,054,420...27,201,610

Tufm

Tu translation elongation factor, mitochondrial

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395

Uchl1

ubiquitin C-terminal hydrolase L1

ISO

CTD Direct Evidence: marker/mechanism

PMID:15930319

NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590

Wif1

Wnt inhibitory factor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:17384664

NCBI chr 7:56,548,060...56,618,364
Ensembl chr 7:56,548,053...56,618,360

Wwox

WW domain-containing oxidoreductase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391

Xiap

X-linked inhibitor of apoptosis

ISO

CTD Direct Evidence: marker/mechanism

PMID:17611394

NCBI chr X:125,756,107...125,803,979
Ensembl chr X:120,897,907...120,934,700

Xrcc3

X-ray repair cross complementing 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:21347786

NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444

Esophageal Stenosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

superoxide dismutase 2

ISO

CTD Direct Evidence: therapeutic

PMID:11121210

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

esophageal varix

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Alb

albumin

ISO

associated with ascites

RGD

PMID:8664482

RGD:1601159

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

Sst

somatostatin

ISO

CTD Direct Evidence: therapeutic

PMID:1385068

NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173

esophagitis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

bone morphogenetic protein 4

ISO

protein:increased expression:esophagus:

RGD

PMID:17570215

RGD:8699511

NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306

Il13

interleukin 13

ISO

RGD

PMID:20543112

RGD:4145528

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

Il4r

interleukin 4 receptor

susceptibility

ISO

associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human)

RGD

PMID:20811626

RGD:5131286

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

prostaglandin-endoperoxide synthase 2

ISO

associated with carcinoma, non-small-cell lung;

RGD

PMID:20811626

RGD:5131286

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

Slc7a5

solute carrier family 7 member 5

ISO

protein:increased expression:epithelium

RGD

PMID:28370814

RGD:151361286

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

superoxide dismutase 2

ISO

CTD Direct Evidence: therapeutic

PMID:11121210

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

Tnf

tumor necrosis factor

susceptibility

ISO

associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human)

RGD

PMID:20811626

RGD:5131286

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

Trpv1

transient receptor potential cation channel, subfamily V, member 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:16091555

NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513

esophagus adenocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abl1

ABL proto-oncogene 1, non-receptor tyrosine kinase

onset

ISO

DNA:SNP:3'utr: (rs4740363) (human)

RGD

PMID:23525077 PMID:31906887

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

Arid1a

AT-rich interaction domain 1A

disease_progression

ISO

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:127285649

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

Barx1

BARX homeobox 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:24121790

NCBI chr17:15,990,412...15,993,887
Ensembl chr17:15,990,412...15,993,887

Bcl2

BCL2, apoptosis regulator

onset

ISO

DNA:SNPs:3'utr: (rs720321, rs17757541) (human)

RGD

NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

Becn1

beclin 1

IEP

RGD

PMID:22301112

RGD:11561943

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

Birc3

baculoviral IAP repeat-containing 3

treatment

ISO

RGD

PMID:26291056

RGD:152999007

NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802

Casp8

caspase 8

onset

ISO

DNA:SNP:5'utr: (rs1035142) (human)

RGD

NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542

Cdc5l

cell division cycle 5-like

disease_progression

ISO

protein:increased expression:esophageal mucosa (human)

RGD

PMID:15725809

RGD:10047052

NCBI chr 9:15,564,949...15,603,453
Ensembl chr 9:15,564,767...15,603,450

Cdkn2a

cyclin-dependent kinase inhibitor 2A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

Crtc1

CREB regulated transcription coactivator 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:24121790

NCBI chr16:18,988,197...19,046,914
Ensembl chr16:18,988,250...19,043,381

Ctsb

cathepsin B

ISO

RGD

PMID:9770500

RGD:734853

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

Cyp19a1

cytochrome P450, family 19, subfamily a, polypeptide 1

onset

ISO

DNA:SNP:5'utr: (rs2445762) (human)

RGD

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

Cyp24a1

cytochrome P450, family 24, subfamily a, polypeptide 1

treatment

ISO

mRNA:increased expression:esophagus (human)

RGD

PMID:30187205

RGD:151665176

NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383

Dock2

dedicator of cytokinesis 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:18,827,237...19,244,832
Ensembl chr10:18,827,239...19,244,808

Elmo1

engulfment and cell motility 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:24121790 PMID:26383589

NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788

Emx2

empty spiracles homeobox 2

ISO

protein:decreased expression:esophagus (human)

RGD

PMID:31432154

RGD:153323302

NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594

Ercc1

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

ISO

DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human)

RGD

PMID:18478337

RGD:13207314

NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963

Fas

Fas cell surface death receptor

ISO

associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human)

RGD

PMID:10340890

RGD:8662425

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

Foxa1

forkhead box A1

ISO

protein:increased expression:esophagus

RGD

PMID:12234996

RGD:151665758

NCBI chr 6:80,838,380...80,871,195
Ensembl chr 6:75,103,503...75,136,188

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

RGD:11535321

NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258

Ghrl

ghrelin and obestatin prepropeptide

onset

ISO

DNA:SNP:5'utr: (rs696217) (human)

RGD

NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621

PMID:32737994 PMID:31809243

glutathione peroxidase 3

susceptibility

ISO

DNA:SNPs:intron: (rs4958872, rs3792797) (human)

RGD

PMID:22715394

RGD:152995500

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

Grb7

growth factor receptor bound protein 7

exacerbates
treatment

ISO

human cells in a mouse model

RGD

RGD:151347656, RGD:151347659

NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052

glutathione S-transferase mu 1

ISO

DNA:deletion:: (human)

RGD

PMID:17064856

RGD:12792242

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

glutathione S-transferase theta 1

ISO

DNA:deletion:: (human)

RGD

PMID:17064856

RGD:12792242

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

Kdr

kinase insert domain receptor

onset

ISO

DNA:SNP:5'utr: (rs11941492) (human)

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

Mir21

microRNA 21

disease_progression

ISO

RGD

PMID:26481465

RGD:41404702

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

Mmp1

matrix metallopeptidase 1

susceptibility

ISO

DNA:insertion:promoter:g.-1607insG rs1799750 (human)

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

Mmp12

matrix metallopeptidase 12

ISO

DNA:snp:promoter:g.-82A>G rs2276109 (human)

RGD

NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611

Mmp14

matrix metallopeptidase 14

onset

ISO

DNA:SNP:5'utr: (rs2236302) (human)

RGD

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

Mmp3

matrix metallopeptidase 3

ISO

DNA:insertion:promoter:g.-1613insA rs3025058 (human)

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

Mmp9

matrix metallopeptidase 9

ISO

protein:increased expression:esophagus

RGD

PMID:25562781

RGD:13204790

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

Nell1

neural EGFL like 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:17452981

NCBI chr 1:99,709,305...100,573,872
Ensembl chr 1:99,709,793...100,573,860

Nos3

nitric oxide synthase 3

onset

ISO

DNA:SNP:3'utr: (rs2070744) (human)

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

Pik3ca

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032

Ptgs1

prostaglandin-endoperoxide synthase 1

IEP

mRNA,protein:increased expression:Esophagus

RGD

PMID:22165968

RGD:5687745

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

PMID:12507933 PMID:12055587

prostaglandin-endoperoxide synthase 2

disease_progression

ISO

CTD Direct Evidence: marker/mechanism
protein: increased expression: esophagus

CTD
RGD

RGD:13207437

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

Slc22a18

solute carrier family 22, member 18

disease_progression

ISO

DNA:hypermethylation: (human)

RGD

PMID:23243219

RGD:150557426

NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975

Smad4

SMAD family member 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:23525077 PMID:24952744

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

Smo

smoothened, frizzled class receptor

treatment

IMP

RGD

PMID:23108119

RGD:150340553

NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829

superoxide dismutase 2

IDA

RGD

PMID:17785574

RGD:2317403

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

Spart

spartin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248

Tlr4

toll-like receptor 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

Tnfrsf10b

TNF receptor superfamily member 10b

onset

ISO

DNA:SNP:3'utr: (rs11775256) (human)

NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

tumor protein p53

ISO

CTD Direct Evidence: marker/mechanism

PMID:25910066 PMID:24951052

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

Vdr

vitamin D receptor

susceptibility
disease_progression

ISO

DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
DNA:amplication: :

RGD

RGD:11055189, RGD:13432070

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

esophagus small cell carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Krt14

keratin 14

IEP

protein:increased expression:esophagus

RGD

PMID:16140947

RGD:1600174

NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799

esophagus squamous cell carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abcc2

ATP binding cassette subfamily C member 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:21206495

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

Adcyap1

adenylate cyclase activating polypeptide 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773

Ajuba

ajuba LIM protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021

Akt1

AKT serine/threonine kinase 1

disease_progression

ISO

protein:increased expression:esophagus (human)

RGD

PMID:32642408

RGD:152995512

NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921

Aldh2

aldehyde dehydrogenase 2 family member

ISO

CTD Direct Evidence: marker/mechanism

PMID:16639733 PMID:22960999

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

Anxa1

annexin A1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

Atm

ATM serine/threonine kinase

disease_progression

ISO

Smoke Inhalation Injury; mRNA:increased expression:esophagus (human)

RGD

PMID:17019709

RGD:150340713

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

Atp1b2

ATPase Na+/K+ transporting subunit beta 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:25129146

NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933

Axin1

axin 1

disease_progression

ISO

protein:decreased expression:esophagus (human)

RGD

PMID:12771989

RGD:150530473

NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615

Azgp1

alpha-2-glycoprotein 1, zinc-binding

disease_progression

ISO

RGD

PMID:28053542

RGD:153350138

NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091

Azin1

antizyme inhibitor 1

ISO

RGD

PMID:24302582

RGD:14700707

NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578

B2m

beta-2 microglobulin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766

Blvrb

biliverdin reductase B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375

Bmi1

BMI1 proto-oncogene, polycomb ring finger

ISO

RGD

PMID:21165554

RGD:126781701

NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690

Bmp6

bone morphogenetic protein 6

ISO

protein:increased expression:esophagus

RGD

PMID:22364398

RGD:7242413

NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365

Brca1

BRCA1, DNA repair associated

ISO

DNA:SNP: :rs799917 (human)

RGD

PMID:23749772

RGD:126925960

NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304

BRCA2, DNA repair associated

ISO

DNA:nonsense mutation: :p.K3326X (human)

RGD

PMID:21279724

RGD:11344913

NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567

Bst2

bone marrow stromal cell antigen 2

disease_progression

ISO

RGD

PMID:26832883

RGD:14398496

NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979

Bub1b

BUB1 mitotic checkpoint serine/threonine kinase B

ISO

CTD Direct Evidence: marker/mechanism

PMID:21517111 PMID:19684620 PMID:23814025

PMID:18691855

NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547

Calr

calreticulin

ameliorates

ISO

CTD Direct Evidence: marker/mechanism
human cells in a mouse model

CTD
RGD

RGD:150521703, RGD:150521679

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

Capza1

capping actin protein of muscle Z-line subunit alpha 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:195,008,035...195,053,100
Ensembl chr 2:192,319,702...192,364,480

Car1

carbonic anhydrase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208

Car12

carbonic anhydrase 12

severity

ISO

RGD

PMID:26316888

RGD:155226859

NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440

Car2

carbonic anhydrase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818

Casp8

caspase 8

exacerbates

ISO

mRNA,protein:decreased expression:esophagus squamous epithelium (human)

RGD

PMID:31885720

RGD:153300949

NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542

Cbx8

chromobox 8

severity

ISO

mRNA:increased expression:esophagus:

RGD

PMID:25197352

RGD:9587436

NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024

Cchcr1

coiled-coil alpha-helical rod protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308

Ccnd1

cyclin D1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602

Cdkn1a

cyclin-dependent kinase inhibitor 1A

ISO

CTD Direct Evidence: therapeutic

PMID:15375580

NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585

Cdkn2a

cyclin-dependent kinase inhibitor 2A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

Cdkn2b

cyclin-dependent kinase inhibitor 2B

ISO

DNA:SNPs: :rs615552, rs573687 (human)

RGD

PMID:23361049

RGD:7248756

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

Cfl1

cofilin 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:23844051 PMID:27610024

NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587

Chrna5

cholinergic receptor nicotinic alpha 5 subunit

susceptibility

ISO

DNA:SNP: :rs667282(human)
mRNA:increased expression:esophagus (human)

RGD

RGD:150524358, RGD:151361143

NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146

Chrna7

cholinergic receptor nicotinic alpha 7 subunit

exacerbates
disease_progression

ISO

mRNA:increased expression:esophagus (human)

RGD

PMID:27610024 PMID:33603170 PMID:33603170

RGD:151361143, RGD:151667905, RGD:151667905

NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240

Chrnb4

cholinergic receptor nicotinic beta 4 subunit

ISO

mRNA:increased expression:esophagus (human)

RGD

PMID:27610024

RGD:151361143

NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027

Clic1

chloride intracellular channel 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:26716642 PMID:24386361 PMID:25480402 PMID:25007268

NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712

Clptm1l

CLPTM1-like

susceptibility
no_association

ISO

DNA:SNP: :rs451360(human)
DNA:SNP: :rs401681(human)
mRNA:increased expression:esophagus

RGD

RGD:11572962, RGD:150537098, RGD:150530497, RGD:150530488

NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530

Col14a1

collagen type XIV alpha 1 chain

disease_progression

ISO

DNA:hypermethylation

RGD

PMID:25050929

RGD:151665741

NCBI chr 7:86,722,093...86,937,215
Ensembl chr 7:86,722,094...86,937,214

Crabp1

cellular retinoic acid binding protein 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:17438526

NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360

Crebbp

CREB binding protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888

Csf1r

colony stimulating factor 1 receptor

ISO

mRNA:decreased expression:esophagus squamous epithelium (human)

PMID:32038997

RGD:150524298

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

Cstb

cystatin B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526

Cxcr4

C-X-C motif chemokine receptor 4

disease_progression

ISO

protein:increased expression:esophagus squamous epithelium (human)

RGD

PMID:17171785

RGD:152023646

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

Cyp1a1

cytochrome P450, family 1, subfamily a, polypeptide 1

ISO

RGD

PMID:11860825

RGD:14700943

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

Cyp1b1

cytochrome P450, family 1, subfamily b, polypeptide 1

IEP

protein:increased expression:esophagus (rat)

RGD

PMID:18618592

RGD:7829715

NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917

Cyp24a1

cytochrome P450, family 24, subfamily a, polypeptide 1

susceptibility

ISO

DNA:SNP:CDS: (rs2296241) (human)

RGD

PMID:28362172

RGD:151665500

NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383

Cyp26b1

cytochrome P450, family 26, subfamily b, polypeptide 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628

Dab2ip

DAB2 interacting protein

severity

ISO

protein:decreased expression:esophagus (human)

RGD

PMID:30464518

RGD:151665168

NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280

DCC netrin 1 receptor

ISO

DNA:deletions:multiple (human)

OMIM
RGD

PMID:8187090

RGD:734879

NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740

Dido1

death inducer-obliterator 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218

Dnmt3b

DNA methyltransferase 3 beta

disease_progression

ISO

protein:increased expression:nucleus:

RGD

PMID:22213175

RGD:9589085

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

Dpp4

dipeptidylpeptidase 4

ISO

protein:increased expression: esophagus

RGD

PMID:17611172 PMID:31885720 PMID:29190834

NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901

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

RGD:153300947, RGD:153300949, RGD:153300948

NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391

Egfr

epidermal growth factor receptor

severity

ISO

protein:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21947696 PMID:10385363

RGD:5131486

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

Ehmt1

euchromatic histone lysine methyltransferase 1

disease_progression

ISO

protein:increased expression:esophagus:
protein:increased expression:esophagus mucosa:

RGD

PMID:24649311 PMID:24805087

RGD:9589143, RGD:9590071

NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007

Ehmt2

euchromatic histone lysine methyltransferase 2

disease_progression

ISO

protein:increased expression:esophagus mucosa:

RGD

PMID:24805087

RGD:9590071

NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547

Ep300

E1A binding protein p300

ISO

CTD Direct Evidence: marker/mechanism

PMID:17965222 PMID:25151357

NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

Epb41l3

erythrocyte membrane protein band 4.1-like 3

disease_progression

ISO

DNA:hypermethylation

RGD

PMID:25050929

RGD:151665741

NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607

Ephb4

EPH receptor B4

exacerbates

ISO

mRNA,protein:increased expression:esophagus squamous epithelium (human)

RGD

PMID:31885720

RGD:153300949

NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314

Erbb4

erb-b2 receptor tyrosine kinase 4

susceptibility
disease_progression

ISO

DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
protein:altered localization:nucleus

RGD

PMID:24916311 PMID:18000820

RGD:126781764, RGD:126781765

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

Ercc1

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

ISO

RGD

PMID:23263828

RGD:11252162

NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963

Ezh2

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

ISO

RGD

PMID:25613619 PMID:21165554

RGD:126781697, RGD:126781701

NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362

Fanca

FA complementation group A

ISO

DNA:missense mutation: :p.S858R (human)

RGD

PMID:21279724

RGD:11344913

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

Fap

fibroblast activation protein, alpha

ISO

protein:increased expression: esophagus

RGD

NCBI chr 3:47,138,823...47,207,671
Ensembl chr 3:47,138,813...47,225,545

Fasn

fatty acid synthase

ISO

CTD Direct Evidence: marker/mechanism

PMID:25151357 PMID:29365412 PMID:24590895

NCBI chr10:106,570,415...106,588,581
Ensembl chr10:106,072,091...106,090,261

Fat1

FAT atypical cadherin 1

ISO

CTD Direct Evidence: marker/mechanism
protein:decreased expression:esophagus squamous epithelium (human)

CTD
RGD

RGD:151347646, RGD:151347630

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

Fat2

FAT atypical cadherin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216

Fat3

FAT atypical cadherin 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135

Fat4

FAT atypical cadherin 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707

Fbxw7

F-box and WD repeat domain containing 7

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

Fes

FES proto-oncogene, tyrosine kinase

exacerbates

ISO

DNA:hypermethylation: (human)

RGD

PMID:24936140

RGD:153323298

NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934

Fgfr4

fibroblast growth factor receptor 4

treatment

ISO

RGD

PMID:25989802

RGD:150520041

NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242

Fkbp1a

FKBP prolyl isomerase 1A

ISO

CTD Direct Evidence: marker/mechanism

PMID:27050876 PMID:29788741

NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743

Foxa1

forkhead box A1

onset

ISO

DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human)

RGD

RGD:151665743, RGD:151665759

NCBI chr 6:80,838,380...80,871,195
Ensembl chr 6:75,103,503...75,136,188

Fubp1

far upstream element binding protein 1

exacerbates

ISO

protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus (human)

RGD

PMID:26490982 PMID:32481602

RGD:151361192, RGD:151361197

NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602

Gdi2

GDP dissociation inhibitor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366

Glo1

glyoxalase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649

PMID:30018730 PMID:25050929

glutathione peroxidase 3

disease_progression

ISO

DNA:hypermethylation

RGD

RGD:151665494, RGD:151665741

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

Grb7

growth factor receptor bound protein 7

exacerbates

ISO

protein:increased expression:esophagus (human)

RGD

PMID:10797316

RGD:151347654

NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052

PMID:11860825 PMID:17916905 PMID:25432134

glutathione S-transferase mu 1

no_association

ISO

RGD

RGD:14700943, RGD:14700982, RGD:14700948

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

Gsto1

glutathione S-transferase omega 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468

Gstp1

glutathione S-transferase pi 1

ISO

DNA:polymorphism: :p.I105V (human)

RGD

PMID:17916905

RGD:14700982

NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226

PMID:17173682 PMID:25432134 PMID:17916905

glutathione S-transferase theta 1

ISO

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:14700948, RGD:14700982

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

H19

H19 imprinted maternally expressed transcript

ISO

CTD Direct Evidence: marker/mechanism

PMID:32739445

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

Hif1a

hypoxia inducible factor 1 subunit alpha

ISO

CTD Direct Evidence: marker/mechanism

PMID:17201171

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

Hmgb1

high mobility group box 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

Hmgn5

high mobility group nucleosome binding domain 5

ISO

CTD Direct Evidence: marker/mechanism

PMID:28914995

NCBI chr X:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441
Ensembl chr 1:74,085,875...74,094,441

Hoxb7

homeo box B7

severity

ISO

protein:increased expression:esophageal mucosa (human)

RGD

PMID:26076456

RGD:10402177

NCBI chr10:81,252,616...81,256,034
Ensembl chr10:81,252,553...81,256,034

Hspa5

heat shock protein family A (Hsp70) member 5

ISO

CTD Direct Evidence: marker/mechanism

PMID:23079781 PMID:23079781

NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891

Htra1

HtrA serine peptidase 1

exacerbates
ameliorates

ISO

mRNA,protein:decreased expression:epithelium of esophagus (human)
human gene and cells in mouse model

RGD

RGD:152975633, RGD:152975633

NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379

Idh2

isocitrate dehydrogenase (NADP(+)) 2

severity

ISO

human cells in mouse model

RGD

PMID:32367071

RGD:149735568

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

Jak2

Janus kinase 2

severity

ISO

protein:increased phosphorylation:esophagus squamous epithelium (human)

RGD

PMID:32158193

RGD:127285669

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

Junb

JunB proto-oncogene, AP-1 transcription factor subunit

exacerbates

ISO

protein:increased expression:esophagus (human)

RGD

PMID:30227324 PMID:19758438

RGD:151347669, RGD:151347672

NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035

Kat2b

lysine acetyltransferase 2B

ISO

mRNA:decreased expression:esophagus (human)

RGD

PMID:19525977

RGD:9590307

NCBI chr 9:6,799,101...6,903,616
Ensembl chr 9:6,562,288...6,667,064

Kdm4c

lysine demethylase 4C

severity
susceptibility

ISO

protein:increased expression:esophageal epithelium, nucleus (human)
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)

RGD

PMID:24224128 PMID:15805246

RGD:9587746, RGD:9587752

NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818

Kdm5b

lysine demethylase 5B

severity

ISO

protein:increased expression:esophageal mucosa, cytoplasm (human)

RGD

PMID:22534467

RGD:9587776

NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872

Kdm6a

lysine demethylase 6A

ameliorates

ISO

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:esophagus (human)
protein:increased expression:esophagus (human)

CTD
RGD

PMID:25151357 PMID:31804468 PMID:29351209

RGD:150429742, RGD:150429739

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

Kmt2c

lysine methyltransferase 2C

ISO

DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25151357 PMID:25151357

RGD:9588233

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

Kmt2d

lysine methyltransferase 2D

ISO

DNA:mutations:multiple (human)
mRNA:increased expression:esophagus
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25151357 PMID:25151357 PMID:29532228

RGD:9588233, RGD:150521712

NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325

Krt13

keratin 13

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,051,887...85,056,099
Ensembl chr10:85,051,889...85,056,084

Krt14

keratin 14

ISO

CTD Direct Evidence: marker/mechanism

PMID:16543248

NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799

Krt16

keratin 16

IEP

RGD

PMID:8950218

RGD:633113

NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799

Krt17

keratin 17

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392

Krt19

keratin 19

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799

Krt7

keratin 7

disease_progression

ISO

RGD

PMID:29788741

RGD:151665759

NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052

Loxl2

lysyl oxidase-like 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:24716982

NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067

Lta

lymphotoxin alpha

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

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

PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532

NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203

Mad2l1

mitotic arrest deficient 2 like 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:15205355 PMID:25162968

PMID:18691855

NCBI chr 4:95,906,692...95,918,885
Ensembl chr 4:95,906,817...95,913,470

Map3k1

mitogen-activated protein kinase kinase kinase 1

sexual_dimorphism

ISO

DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human)

RGD

PMID:32753933

RGD:150573717

NCBI chr 2:45,081,889...45,150,555
Ensembl chr 2:43,350,098...43,414,463

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

RGD:9588976, RGD:9588980

NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982

Mgmt

O-6-methylguanine-DNA methyltransferase

disease_progression

ISO

CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, esophagus

CTD
RGD

PMID:25520135 PMID:21674174

RGD:126790574

NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756

Mir10a

microRNA 10a

ISO

miRNA:increased expression:esophagus squamous epithelium (human)

RGD

PMID:32997362

RGD:153323343

NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280

Mir127

microRNA 127

ISO

RNA:decreased expression:esophagus (human)

RGD

PMID:27645894

RGD:152995354

NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311

Mir193a

microRNA 193a

exacerbates

ISO

miRNA:decreased expression:esophagus (human)

RGD

PMID:27203740

RGD:153323341

NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454

Mir217

microRNA 217

ISO

CTD Direct Evidence: marker/mechanism

PMID:32123074 PMID:21658006

PMID:25538231

NCBI chr14:102,531,505...102,531,609
Ensembl chr14:102,531,505...102,531,609

Mir31

microRNA 31

ameliorates

IMP
ISO

RGD

RGD:127285381, RGD:152998938

NCBI chr 5:103,599,038...103,599,143

Mir423

microRNA 423

ISO

CTD Direct Evidence: marker/mechanism

PMID:24205249

NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226

Mir494

microRNA 494

ISO

mRNA:decreased expression:esophagus

RGD

PMID:25480402

RGD:150530497

NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793

Mlh1

mutL homolog 1

disease_progression

ISO

DNA, protein:hypermethylation, decreased expression:promoter, esophagus

RGD

PMID:21674174

RGD:126790574

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

Mmp14

matrix metallopeptidase 14

ISO

protein:increased expression: esophagus

RGD

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

Mmp2

matrix metallopeptidase 2

ISO

protein:increased activity: esophagus

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

Mmp9

matrix metallopeptidase 9

ISO

protein:increased activity: esophagus

RGD

PMID:22265839 PMID:21674174 PMID:24366688

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

Msh2

mutS homolog 2

disease_progression

ISO

DNA, protein:hypermethylation, decreased expression:promoter, esophagus
DNA, protein:hypermethylation, decreased expression:esophagus

RGD

RGD:126790560, RGD:126790574, RGD:126790573

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

Mt1

metallothionein 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:16543248

NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
Ensembl chr X:10,826,032...10,827,049

Nfe2l2

NFE2 like bZIP transcription factor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

Notch1

notch receptor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

Notch2

notch receptor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

Notch3

notch receptor 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025

Ogg1

8-oxoguanine DNA glycosylase

ISO

CTD Direct Evidence: marker/mechanism

PMID:38467300

NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

Pagr1

Paxip1-associated glutamate-rich protein 1

ISO

mRNA, protein:decreased expression:esophagus (human)

RGD

PMID:33833989

RGD:153344568

NCBI chr 1:181,622,698...181,625,024

Pbx3

PBX homeobox 3

ISO

RNA:increased expression:esophagus squamous epithelium (human)

RGD

PMID:32449803

RGD:153345544

NCBI chr 3:17,488,691...17,682,412
Ensembl chr 3:17,488,693...17,682,791

Pfn1

profilin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631

Plce1

phospholipase C, epsilon 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:20729852 PMID:20729853

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

Prdx1

peroxiredoxin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856

Psmb9

proteasome 20S subunit beta 9

disease_progression

ISO

RGD

PMID:19492245

RGD:6482249

NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512

Psme1

proteasome activator subunit 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890

Psme2

proteasome activator subunit 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946

Ptch1

patched 1

disease_progression

ISO

RGD

PMID:16475698

RGD:150523841

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

prostaglandin-endoperoxide synthase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:15756444 PMID:16543248 PMID:18197933

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

Ptprt

protein tyrosine phosphatase, receptor type, T

susceptibility

ISO

DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human)

RGD

PMID:25967969

RGD:150520191

NCBI chr 3:150,189,343...151,288,145
Ensembl chr 3:150,194,859...151,288,124

Rb1

RB transcriptional corepressor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:30119206 PMID:32642408 PMID:28132115

NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302

Rictor

RPTOR independent companion of MTOR, complex 2

disease_progression
severity

ISO

human cells in mouse model
protein:increased expression:esophagus (human)

RGD

RGD:152995460, RGD:152995512, RGD:152995470

NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426

Rnf6

ring finger protein 6

ISO

ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic

ClinVar
OMIM

PMID:12154016

NCBI chr12:13,929,160...13,940,663
Ensembl chr12:8,816,833...8,826,847

Runx1

RUNX family transcription factor 1

ISO

DNA:SNP: :rs2014300 (human)

RGD

PMID:30666517

RGD:126775149

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

Runx2

RUNX family transcription factor 2

ISO

mRNA:increased expression:esophagus mucosa

RGD

PMID:18500170

RGD:126779568

NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167

Runx3

RUNX family transcription factor 3

disease_progression

ISO

mRNA:decreased expression:esophagus mucosa

RGD

PMID:18500170

RGD:126779568

NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156

Sall4

spalt-like transcription factor 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822

Serpinb3

serpin family B member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682

Setd5

SET domain containing 5

disease_progression

ISO

RGD

PMID:31981592

RGD:155804254

NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894

Sfn

stratifin

ISO

CTD Direct Evidence: marker/mechanism

PMID:33609949 PMID:26936531

NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314

Slc16a10

solute carrier family 16 member 10

ISO

protein:increased expression:esophagus

RGD

PMID:33609949

RGD:151361149

NCBI chr20:43,454,819...43,567,839
Ensembl chr20:43,459,709...43,567,839

Slc1a5

solute carrier family 1 member 5

disease_progression

ISO

protein:increased expression:esophagus

RGD

RGD:151361149, RGD:11532833

NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952

Slc39a6

solute carrier family 39 member 6

ISO

CTD Direct Evidence: therapeutic

PMID:23644492

NCBI chr18:15,864,874...15,885,417
Ensembl chr18:15,864,875...15,885,417

Slc52a3

solute carrier family 52 member 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:31726270 PMID:26936531 PMID:33609949

PMID:20729853

NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096

Slc7a5

solute carrier family 7 member 5

disease_progression

ISO

protein:increased expression:esophagus

RGD

RGD:151361144, RGD:11532833, RGD:151361149

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

Socs1

suppressor of cytokine signaling 1

severity
treatment

ISO

mRNA:decreased expression:esophagus

RGD

PMID:21385099 PMID:31728180 PMID:28233302

RGD:150573691, RGD:150573815, RGD:150573812

NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383

superoxide dismutase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:18167182 PMID:21517111

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

Sox2

SRY-box transcription factor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:19801978

NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338

Spen

spen family transcriptional repressor

ISO

associated with Neoplasm Metastasis; DNA:mutations

RGD

PMID:33363385

RGD:151347445

NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811

Stim1

stromal interaction molecule 1

exacerbates

ISO

protein:increased expression:esophagus (human)

PMID:31843504

RGD:152995393

NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363

Sting1

stimulator of interferon response cGAMP interactor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:25129146

NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335

Sult1a1

sulfotransferase family 1A member 1

ISO

DNA:SNP:exon:p.R213H, 638G>A (human)

RGD

PMID:12455060

RGD:1581448

NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562

Tagln

transgelin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668

Tap1

transporter 1, ATP binding cassette subfamily B member

ISO

protein:decreased expression:esophagus

RGD

PMID:19492245

RGD:6482249

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

Tap2

transporter 2, ATP binding cassette subfamily B member

ISO

protein:decreased expression:esophagus

RGD

PMID:19492245

RGD:6482249

NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407

Tcn2

transcobalamin 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:26716642 PMID:15112252 PMID:25007268

NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489

Tert

telomerase reverse transcriptase

susceptibility
no_association

ISO

DNA:SNPs: : rs2853691,rs2736100(human)
mRNA:increased expression:esophagus squamous epithelium:
DNA:SNP: :rs2736098(human)

RGD

RGD:11572962, RGD:152977757, RGD:150530488

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

Tet2

tet methylcytosine dioxygenase 2

severity

ISO

mRNA:decreased expression:esophagus squamous epithelium (human)
associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)
DNA:mutations

RGD

PMID:26093090 PMID:27050164 PMID:26873401

RGD:11528815, RGD:150429668, RGD:150429656

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

Tet3

tet methylcytosine dioxygenase 3

ISO

mRNA:decreased expression:esophagus squamous epithelium (human)

RGD

PMID:27050164

RGD:150429668

NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193

Tgfbr2

transforming growth factor, beta receptor 2

ISO

OMIM

NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228

Tnfaip3

TNF alpha induced protein 3

severity

ISO

mRNA,protein:increased expression:esophagus squamous epithelium (human)

RGD

PMID:28197630

RGD:151347617

NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282

Tnfaip8

TNF alpha induced protein 8

ISO

CTD Direct Evidence: marker/mechanism

PMID:21969086

NCBI chr18:43,183,854...43,299,512
Ensembl chr18:43,183,916...43,299,517

Tnxb

tenascin XB

ISO

CTD Direct Evidence: marker/mechanism

PMID:16543248 PMID:25151357 PMID:28789369

tumor protein p53

ISO

DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:14995932

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

Tpi1

triosephosphate isomerase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541

Tpm1

tropomyosin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:76,516,654...76,543,661
Ensembl chr 8:67,635,479...67,662,802

Tpm2

tropomyosin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992

Txndc17

thioredoxin domain containing 17

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:56,832,749...56,835,721

Tymp

thymidine phosphorylase

ISO

CTD Direct Evidence: marker/mechanism

PMID:11641616

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

Usp8

ubiquitin specific peptidase 8

ISO

CTD Direct Evidence: marker/mechanism

PMID:35022897

NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666

Uty

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

ISO

DNA:mutations:multiple (human)

RGD

RGD:9588233

NCBI chr Y:942,838...1,105,313
Ensembl chr Y:924,168...1,103,422

Ventx

VENT homeobox

ISO

CTD Direct Evidence: marker/mechanism

PMID:24898882 PMID:25148895

NCBI chr X:86,483,893...86,484,900
Ensembl chr X:86,483,893...86,484,954

Wrap53

WD repeat containing, antisense to TP53

disease_progression

ISO

RGD

PMID:24626331

RGD:21081532

NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929

Wwox

WW domain-containing oxidoreductase

ISO

esophageal squamous cell carcinoma, OMIM:133239
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma | ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD
RGD

PMID:11956080 PMID:16199547 PMID:24456803 PMID:25411445 PMID:25526675 More...

RGD:1599874

NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391

Xpo1

exportin 1

exacerbates

ISO

mRNA, protein:increased expression:epithelium of esophagus (human)
protein:increased expression:esophagus (human)

RGD

RGD:151667431, RGD:151667436

NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498

Xrcc1

X-ray repair cross complementing 1

no_association
susceptibility
treatment

ISO

CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds: p.R399Q (human)
DNA:SNPs,haplotypes:multiple (human)
DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)

CTD
RGD

PMID:16639733 PMID:11400117 PMID:25710005 PMID:27123143 PMID:28356949

RGD:151347444, RGD:150530501, RGD:150530634, RGD:150530505

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

Zcchc12

zinc finger CCHC-type containing 12

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692

Feingold syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mycn

MYCN proto-oncogene, bHLH transcription factor

ISO

CTD Direct Evidence: marker/mechanism
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 Annotator: match by term: OCULODIGITOESOPHAGODUODENAL SYNDROME | ClinVar Annotator: match by term: ODED SYNDROME

PMID:1459449 PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 More...

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

Ttn

titin

ISO

ClinVar Annotator: match by term: ODED SYNDROME

PMID:22335739 PMID:23975875 PMID:25326635 PMID:25589632 PMID:25741868 More...

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

Feingold Syndrome 1

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mycn

MYCN proto-oncogene, bHLH transcription factor

ISO

ClinVar Annotator: match by term: MYCN-related condition

PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

gastroesophageal reflux disease

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abat

4-aminobutyrate aminotransferase

ISO

CTD Direct Evidence: marker/mechanism

PMID:21552517

NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835

Abcc8

ATP binding cassette subfamily C member 8

ISO

ClinVar Annotator: match by term: Gastroesophageal reflux

PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More...

NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510

Actl6a

actin-like 6A

ISO

ClinVar Annotator: match by term: Gastroesophageal reflux

PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175

NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401

Ccl26

C-C motif chemokine ligand 26

ISO

protein:increased expression:esophagus (human)

RGD

PMID:17900656

RGD:11081162

NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335

Pla2g2a

phospholipase A2 group IIA

ISO

RGD

PMID:19672667

RGD:6482726

NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014

prostaglandin-endoperoxide synthase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:21451212

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

Ryr1

ryanodine receptor 1

ISO

ClinVar Annotator: match by term: Gastroesophageal reflux

NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812

Tac1

tachykinin, precursor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:20616304

NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178

Tlr2

toll-like receptor 2

ISO

protein:decreased expression:sputum, macrophage

RGD

PMID:21426732

RGD:7240539

NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630

Tp63

tumor protein p63

ISS

OMIM:109350

NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398

Zfp469

zinc finger protein 469

ISO

ClinVar Annotator: match by term: Gastroesophageal reflux

PMID:25741868

NCBI chr19:50,282,337...50,324,010

Martinez-Frias Syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rfx6

regulatory factor X, 6

ISO

ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA

PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More...

NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147

Moyamoya Disease 6 with Achalasia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gucy1a1

guanylate cyclase 1 soluble subunit alpha 1

ISO

ClinVar Annotator: match by term: GUCY1A1-related condition | ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia

PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532

NCBI chr 2:169,716,684...169,780,360
Ensembl chr 2:167,418,640...167,481,671

Mungan Syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rad21

RAD21 cohesin complex component

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mungan syndrome

OMIM
CTD
ClinVar

PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532

NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817

palmoplantar keratoderma-esophageal carcinoma syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rhbdf2

rhomboid 5 homolog 2

ISO
ISS

ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome | ClinVar Annotator: match by term: RHBDF2-related condition | ClinVar Annotator: match by term: Tylosis with esophageal cancer
OMIM:148500
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 More...

NCBI chr10:101,833,157...101,860,283
Ensembl chr10:101,833,157...101,860,283

peptic esophagitis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

bone morphogenetic protein 4

IEP

protein:increased expression:esophagus:

RGD

PMID:17570215

RGD:8699511

NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306

Ccl5

C-C motif chemokine ligand 5

IEP

associated with Asthma;mRNA:increased expression:esophagus

RGD

PMID:18222984

RGD:2307110

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

Cldn3

claudin 3

IEP

protein:altered expression:epithelial cell, esophagus:

RGD

PMID:21373849

RGD:11344880

NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001

Cldn4

claudin 4

IEP

protein:altered localization:esophagus epithelium, cytoplasm

RGD

PMID:16143882

RGD:2317602

NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436

Egfr

epidermal growth factor receptor

IEP

mRNA, protein:increased expression:esophagus, basal cell

RGD

PMID:11966524

RGD:10395244

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

F11r

F11 receptor

treatment

IEP

RGD

PMID:19478094

RGD:7488941

NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402

Il13

interleukin 13

IEP

associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid

RGD

PMID:18222984

RGD:2307110

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

Il5

interleukin 5

IEP

associated with asthma; mRNA:increased expression:esophagus

RGD

PMID:18222984

RGD:2307110

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

Mir223

microRNA 223

IEP

RNA:increased expression: esophagus

RGD

PMID:28757556

RGD:25824949

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

Mir29a

microRNA 29a

IEP

RGD

PMID:28757556

RGD:25824949

NCBI chr 4:59,650,608...59,650,695

Psmb9

proteasome 20S subunit beta 9

IEP

protein:decreased expression:esophageal epithelium (rat)

RGD

PMID:23942904

RGD:9854630

NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512

Ptges

prostaglandin E synthase

IEP

protein:increased expression:esophagus

RGD

PMID:16210398

RGD:2300085

NCBI chr 3:34,575,643...34,586,987

Tjp1

tight junction protein 1

IEP

RGD

PMID:19653339

RGD:2325133

NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432

Tnf

tumor necrosis factor

IDA

RGD

PMID:15942680

RGD:1580209

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

Vdr

vitamin D receptor

susceptibility

ISO

DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)

RGD

PMID:25910066

RGD:11055189

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

syndromic microphthalmia 3

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Actl6a

actin-like 6A

ISO

ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome

NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401

Ccdc39

coiled-coil domain 39 molecular ruler complex subunit

ISO

ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome

NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350

Dnajc19

DnaJ heat shock protein family (Hsp40) member C19

ISO

ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome

PMID:16543359 PMID:17522144 PMID:19921648 PMID:22382802 PMID:23701296 More...

NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264

Fxr1

FMR1 autosomal homolog 1

ISO

ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome

NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590

Mrpl47

mitochondrial ribosomal protein L47

ISO

ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome

NCBI chr 2:115,507,842...115,520,093
Ensembl chr 2:115,500,264...115,518,994

Ndufb5

NADH:ubiquinone oxidoreductase subunit B5

ISO

ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome

NCBI chr 2:115,519,248...115,533,589
Ensembl chr 2:115,519,154...115,533,589

Pex5l

peroxisomal biogenesis factor 5-like

ISO

ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome

NCBI chr 2:115,694,868...115,908,365
Ensembl chr 2:115,700,972...115,913,628

Six6

SIX homeobox 6

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia

NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548

Six6os1

Six6 opposite strand transcript 1

ISO

ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia

NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148

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
CTD Direct Evidence: marker/mechanism

PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More...

NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338

Ttc14

tetratricopeptide repeat domain 14

ISO

ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome

NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158

Usp13

ubiquitin specific peptidase 13

ISO

ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome

NCBI chr 2:115,576,912...115,689,153
Ensembl chr 2:115,577,091...115,686,222

Tracheoesophageal Fistula

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Add1

adducin 1

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182

Amer3

APC membrane recruitment protein 3

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 9:36,790,355...36,802,341
Ensembl chr 9:36,790,932...36,802,419

Ap1g2

adaptor related protein complex 1 subunit gamma 2

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004

Apc2

APC regulator of WNT signaling pathway 2

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310

bone morphogenetic protein 4

IEP

RGD

PMID:16818050

RGD:2289003

NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306

BRCA2, DNA repair associated

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

PMID:1772447 PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 More...

NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567

Celsr2

cadherin, EGF LAG seven-pass G-type receptor 2

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845

Eftud2

elongation factor Tu GTP binding domain containing 2

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079

Fgfr2

fibroblast growth factor receptor 2

IEP

associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat)

RGD

PMID:15065023

RGD:12801427

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

Gart

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125

Gls

glutaminase

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900

Gtf3c1

general transcription factor IIIC subunit 1

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 1:189,634,645...189,700,848
Ensembl chr 1:180,203,995...180,270,201

Irf8

interferon regulatory factor 8

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

Itsn1

intersectin 1

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645

Klhl17

kelch-like family member 17

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925

Lurap1l

leucine rich adaptor protein 1-like

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 5:95,362,005...95,409,439
Ensembl chr 5:95,362,005...95,409,438

Palb2

partner and localizer of BRCA2

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

PMID:17200668 PMID:23824750 PMID:25741868 PMID:26283626 PMID:26315354 More...

NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

Pcdh1

protocadherin 1

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr18:30,011,692...30,039,679
Ensembl chr18:30,013,185...30,039,318

Pcsk5

proprotein convertase subtilisin/kexin type 5

ISO

CTD Direct Evidence: marker/mechanism

PMID:18519639

NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600

Pik3c2g

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544

Polr2b

RNA polymerase II subunit B

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr14:30,797,228...30,834,916
Ensembl chr14:30,797,228...30,834,916

Ptpn14

protein tyrosine phosphatase, non-receptor type 14

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088

Rab3gap2

RAB3 GTPase activating non-catalytic protein subunit 2

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478

Sclt1

sodium channel and clathrin linker 1

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

PMID:25741868 PMID:28492532 PMID:36135330 PMID:36474027

NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065

Smad6

SMAD family member 6

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

PMID:28492532 PMID:32641753 PMID:35519826

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

Tecpr1

tectonin beta-propeller repeat containing 1

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr12:10,391,587...10,420,462
Ensembl chr12:10,391,696...10,419,611

Tlr9

toll-like receptor 9

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

Wdfy3

WD repeat and FYVE domain containing 3

ISO

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482

triple-A syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Aaas

aladin WD repeat nucleoporin

ISO

ClinVar Annotator: match by term: AAAS-related condition | ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia
CTD Direct Evidence: marker/mechanism

PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More...

NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961

Myg1

MYG1 exonuclease

ISO

ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia

NCBI chr 7:133,456,778...133,463,985
Ensembl chr 7:133,456,750...133,466,969

VACTERL association

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cplane2

ciliogenesis and planar polarity effector complex subunit 2

ISS

OMIM:192350 | OMIM:276950

NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508

Dync2h1

dynein cytoplasmic 2 heavy chain 1

ISS

OMIM:192350 | OMIM:276950

NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183

Fancl

FA complementation group L

ISO

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chr14:104,449,403...104,515,297
Ensembl chr14:100,248,875...100,314,255

Fn1

fibronectin 1

IEP

protein:increased expression:embryo

RGD

PMID:14986037

RGD:7205466

NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678

Foxf1

forkhead box F1

ISO

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738

Gli2

GLI family zinc finger 2

ISO

RGD

PMID:11172440

RGD:155791680

NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574

Gli3

GLI family zinc finger 3

ISO

RGD

PMID:11172440

RGD:155791680

NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712

Hoxd13

homeo box D13

ISO

ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism

ClinVar
CTD

PMID:19006232

NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963

Ift172

intraflagellar transport 172

ISS

OMIM:192350 | OMIM:276950

NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860

Notch2

notch receptor 2

ISO

ClinVar Annotator: match by term: VATER association

PMID:18519639 PMID:18519639

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

Pcsk5

proprotein convertase subtilisin/kexin type 5

ISO
ISS

CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)

CTD
MouseDO
RGD

RGD:11556208

NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600

Qsox1

quiescin sulfhydryl oxidase 1

ISS

OMIM:192350 | OMIM:276950

NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459

Shh

sonic hedgehog signaling molecule

IEP

RGD

PMID:12632369

RGD:12801426

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

Tbc1d32

TBC1 domain family, member 32

ISS

OMIM:192350 | OMIM:276950

NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415

Trap1

TNF receptor-associated protein 1

ISO

ClinVar Annotator: match by term: VACTERL association

PMID:25741868

NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981

X-linked VACTERL association

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Baz1a

bromodomain adjacent to zinc finger domain, 1A

ISO

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459

Fancb

FA complementation group B

ISO

CTD Direct Evidence: marker/mechanism
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

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192

Fancl

FA complementation group L

ISO

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chr14:104,449,403...104,515,297
Ensembl chr14:100,248,875...100,314,255

Pten

phosphatase and tensin homolog

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838

Sall1

spalt-like transcription factor 1

ISO

ClinVar Annotator: match by term: VACTERL-H