esophageal disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	esophageal disease	go back to main search page
Accession:	DOID:6050	browse the term
Definition:	A gastrointestinal system disease that is located_in the esophagus. (DO)
Synonyms:	exact_synonym:	esophageal diseases
	narrow_synonym:	esophageal ulcer
	primary_id:	MESH:D004935
	xref:	EFO:0009544; ICD10CM:K22.9; ICD9CM:530.9; NCI:C3027
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (502) Mouse (514) Human (4126) Chinchilla (452) Bonobo (481) Dog (493) Squirrel (459) Pig (486) Green Monkey (474) Naked Mole-rat (450) All
Genes (501) Strains (1)

esophageal disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel, subfamily V, member 1

CTD Direct Evidence: marker/mechanism

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

achalasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aladin WD repeat nucleoporin

susceptibility

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

G

lamin A/C

OMIM:200400

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

G

nitric oxide synthase 1

OMIM:200400

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

G

RT1 class II, locus Ba

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

CTD
RGD

PMID:24997987 PMID:11837716

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

G

RT1 class II, locus Bb

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

G

sprouty RTK signaling antagonist 2

OMIM:200400

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

G

vasoactive intestinal peptide receptor 1

onset

DNA:SNP:intron:rs437876 (human)

RGD

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

alacrima, achalasia, and impaired intellectual development syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angio-associated, migratory cell protein

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

G

ATP binding cassette subfamily B member 6

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

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

G

actin related protein 2/3 complex, subunit 2

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

G

acid sensing ion channel subunit family member 4

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

G

autophagy related 9A

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

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

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

G

ciliogenesis associated TTC17 interacting protein

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

G

cyclin-dependent kinase 5 regulatory subunit 2

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

G

cilia and flagella associated protein 65

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

G

chondroitin polymerizing factor

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

G

CCR4-NOT transcription complex subunit 9

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

G

cyclin Pas1/PHO80 domain containing 1

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

G

crystallin, beta A2

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

G

CTD small phosphatase 1

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

G

C-X-C motif chemokine receptor 1

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

G

C-X-C motif chemokine receptor 2

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

G

cytochrome P450, family 27, subfamily a, polypeptide 1

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

G

desmin

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

G

DnaJ heat shock protein family (Hsp40) member B2

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

G

aspartyl aminopeptidase

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

G

FEV transcription factor, ETS family member

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

G

galactosidase, beta 1-like

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

G

GDP-mannose pyrophosphorylase A

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

OMIM
MouseDO
ClinVar

PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478

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

G

G protein-coupled bile acid receptor 1

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

G

Indian hedgehog signaling molecule

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

G

microRNA 26b

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

G

microRNA 375

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

G

nonhomologous end-joining factor 1

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

G

obscurin like cytoskeletal adaptor 1

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

G

phospholipase C, delta 4

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

G

PNKD metallo-beta-lactamase domain containing

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

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

G

protein tyrosine phosphatase, receptor type, N

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

G

regulated endocrine-specific protein 18

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

G

reticulophagy regulator family member 2

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

G

ring finger protein 25

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

NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849

G

solute carrier family 11 member 1

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

G

solute carrier family 23, member 3

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

G

striated muscle enriched protein kinase

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

G

serine/threonine kinase 16

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

G

serine/threonine kinase 36

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

G

transmembrane BAX inhibitor motif containing 1

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

G

transmembrane protein 198

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

G

tubulin tyrosine ligase like 4

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

G

tubulin, alpha 4A

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

G

ubiquitin specific peptidase 37

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

G

villin 1

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

G

Wnt family member 10A

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

G

Wnt family member 6

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

G

zinc finger AN1-type containing 2B

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

G

zinc finger protein 142

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 26, subfamily a, polypeptide 1

RGD

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

G

glutathione peroxidase 3

DNA:hypermethylation
DNA:hypermethylation:promoter

RGD

PMID:16229808 PMID:18664505

RGD:151665354, RGD:151665749

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

G

glutathione peroxidase 7

DNA:hypermethylation:promoter

RGD

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

Barrett's esophagus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activating signal cointegrator 1 complex subunit 1

ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:21791690 PMID:25741868 PMID:28492532

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

G

beta-1,3-glucuronyltransferase 2

DNA:hypermethylation:esophageal squamous epithelium

RGD

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

G

beclin 1

disease_progression

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

G

bone morphogenetic protein 4

protein:increased expression:esophagus:

RGD

PMID:17570215 PMID:17570215

RGD:8699511, RGD:8699511

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

cadherin 13

CTD Direct Evidence: marker/mechanism

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

G

cyclin-dependent kinase inhibitor 1A

protein:increased expression:nucleus of esophagus mucosa:

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

caudal type homeo box 2

disease_progression

RGD

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

G

collagen triple helix repeat containing 1

ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

G

cytochrome P450, family 26, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

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

G

Fas cell surface death receptor

severity

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

forkhead box P1

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

RGD

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

G

gastrin

CTD Direct Evidence: marker/mechanism

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

G

GATA binding protein 6

disease_progression

protein:increased expression: esophagus squamous epithelium (human)

RGD

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

G

glutathione peroxidase 3

DNA:hypermethylation:promoter

RGD

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

G

glutathione peroxidase 7

DNA:hypermethylation:promoter

RGD

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

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

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

G

insulin-like growth factor binding protein 3

associated with Aneuploidy; protein:increased expression:serum:

RGD

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

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

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

G

microRNA 145

miRNA:increased expression:esophagus (human)

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

G

microRNA 196a

miRNA:increased expression:esophagus (human)

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

G

microRNA 223

disease_progression

RGD

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

G

microRNA 30a

miRNA:increased expression:esophagus (human)

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

G

marker of proliferation Ki-67

severity

RGD

NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762

G

matrix metallopeptidase 1

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

G

matrix metallopeptidase 12

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

G

macrophage scavenger receptor 1

ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma | ClinVar Annotator: match by term: Barrett's esophagus
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

G

mucin 2, oligomeric mucus/gel-forming

disease_progression

RGD

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

G

nuclear receptor subfamily 1, group I, member 2

CTD Direct Evidence: marker/mechanism

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

G

peroxisome proliferator-activated receptor gamma

CTD Direct Evidence: marker/mechanism

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

G

prostaglandin E synthase

mRNA:increased expression:esophagus

RGD

NCBI chr 3:14,177,892...14,189,236

G

prostaglandin-endoperoxide synthase 2

disease_progression

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

CTD
RGD

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

RGD:1642603, RGD:7349348, RGD:13207438

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

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

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

G

reprimo, TP53 dependent G2 arrest mediator homolog

CTD Direct Evidence: marker/mechanism

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

G

solute carrier family 9 member A1

CTD Direct Evidence: marker/mechanism

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

G

smoothened, frizzled class receptor

treatment

RGD

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

G

somatostatin

CTD Direct Evidence: marker/mechanism

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

G

vitamin D receptor

susceptibility

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

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

zinc finger protein 1, Y-linked

DNA:hypermethylation:esophageal squamous epithelium

RGD

CREST syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centromere protein C

associated with Anticentromere antibody positivity

RGD

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

G

fibrillin 1

RGD

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

Deglutition Disorders

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multiple EGF-like domains 10

CTD Direct Evidence: marker/mechanism

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

G

nebulin

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

G

replication timing regulatory factor 1

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

G

solute carrier family 6 member 3

ClinVar Annotator: match by term: Dysphagia

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

G

TAM41 mitochondrial translocator assembly and maintenance homolog

ClinVar Annotator: match by term: Dysphagia

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

G

tRNA splicing endonuclease subunit 2

CTD Direct Evidence: marker/mechanism

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

G

tRNA splicing endonuclease subunit 34

CTD Direct Evidence: marker/mechanism

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

G

tRNA splicing endonuclease subunit 54

CTD Direct Evidence: marker/mechanism

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

G

ubiquitin C-terminal hydrolase L1

DNA:deletion

RGD

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

G

ubiquitin C-terminal hydrolase L3

RGD

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multiple EGF-like domains 10

ClinVar Annotator: match by term: MEGF10-related myopathy

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiogenin

RGD

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

G

ankyrin repeat domain 27

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

RGD

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

G

C-C motif chemokine ligand 26

treatment

protein:increased expression:esophagus (human)

RGD

PMID:18844613 PMID:24704289

RGD:11081156, RGD:11081157

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

G

C-C motif chemokine receptor 3

RGD

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

G

CD40 ligand

protein:decreased expression:plasma

RGD

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

G

cytochrome P450, family 2, subfamily C, polypeptide 6

treatment

DNA:polymorphisms::

RGD

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

G

interleukin 5

RGD

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

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:esophagus (human)

RGD

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

G

transforming growth factor, beta 1

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

thymic stromal lymphopoietin

CTD Direct Evidence: marker/mechanism

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

esophageal atresia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

autophagy and beclin 1 regulator 1

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

G

ATPase Na+/K+ transporting subunit alpha 3

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

G

ATPase H+ transporting V0 subunit a1

ClinVar Annotator: match by term: Esophageal atresia

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

G

C2 calcium-dependent domain containing 4A

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

G

calcium voltage-gated channel subunit alpha1 C

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

G

cell division cycle 27

ClinVar Annotator: match by term: Esophageal atresia

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

G

c-Maf-inducing protein

ClinVar Annotator: match by term: Esophageal atresia

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

G

dispatched RND transporter family member 1

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

G

drosha ribonuclease III

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

G

DS cell adhesion molecule

ClinVar Annotator: match by term: Esophageal atresia

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

G

dystonin

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

G

elongation factor Tu GTP binding domain containing 2

DNA:mutations:multiple (human)

RGD

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

G

gamma-aminobutyric acid type A receptor subunit gamma 2

ClinVar Annotator: match by term: Esophageal atresia

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

G

glutathione S-transferase mu 1

DNA:deletion:: (human)

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

homeo box C4

mRNA:decreased expression:lung (mouse)

RGD

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

G

immunoglobulin superfamily, member 3

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr 2:188,811,394...188,899,645
Ensembl chr 2:188,811,380...188,899,645

G

insulin receptor

ClinVar Annotator: match by term: Esophageal atresia

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

G

integrin subunit beta 1

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195

G

potassium voltage-gated channel subfamily A member 6

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

G

midline 2

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

G

N-acetylglutamate synthase

ClinVar Annotator: match by term: Esophageal atresia

NCBI chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465

G

notch receptor 1

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

G

phosphodiesterase 4D

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

G

polo-like kinase 2

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

G

retinitis pigmentosa GTPase regulator

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

G

signal-induced proliferation-associated 1

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

G

signal transducer and activator of transcription 5A

ClinVar Annotator: match by term: Esophageal atresia

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

G

transcription factor 4

ClinVar Annotator: match by term: Esophageal atresia

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

G

teneurin transmembrane protein 2

ClinVar Annotator: match by term: Esophageal atresia

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

G

terminal nucleotidyltransferase 5A

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

G

telomerase reverse transcriptase

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

G

WD repeat domain 13

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula

PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 PMID:9667259 More...

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

GLI family zinc finger 2

RGD

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

G

noggin

OMIM:189960

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

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Esophageal atresia with or without 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

G

sodium channel and clathrin linker 1

ClinVar Annotator: match by term: Esophageal atresia with or without 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

G

sonic hedgehog signaling molecule

RGD

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

esophageal cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

protein:increased expression:esophagus (human)

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

aldehyde dehydrogenase 2 family member

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

G

basic helix-loop-helix family, member e41

protein:increased expression:esophagus(human)

RGD

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

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Esophagus cancer

PMID:25741868 PMID:28492532 PMID:31911673

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

catenin alpha 1

disease_progression

RGD

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

G

C-X-C motif chemokine ligand 1

protein:increased expression:serum

RGD

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

G

cytochrome P450, family 1, subfamily a, polypeptide 1

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

G

cytochrome P450, family 24, subfamily a, polypeptide 1

ameliorates

RNA:decreased expression:esophagus (human)

RGD

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

G

DCC netrin 1 receptor

ClinVar Annotator: match by term: Esophagus cancer

PMID:25741868 PMID:28492532

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

G

DLEC1 cilia and flagella associated protein

ClinVar Annotator: match by term: Esophagus cancer

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

G

fibroblast growth factor 2

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

glutathione peroxidase 3

treatment

DNA:hypermethylation

RGD

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

G

glutathione S-transferase mu 1

RGD

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

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

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

heme oxygenase 1

protein:increased expression:esophagus

RGD

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

G

interleukin 10

treatment

RGD

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

G

interleukin 1 beta

treatment

RGD

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

G

interleukin 1 receptor type 2

susceptibility

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

RGD

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

G

interleukin 5

treatment

RGD

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

G

leucine zipper tumor suppressor 1

esophageal squamous cell carcinoma, OMIM:133239

RGD

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

G

MAF bZIP transcription factor

ClinVar Annotator: match by term: Esophagus cancer

PMID:25741868 PMID:28492532

NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365

G

microRNA 155

RGD

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

G

microRNA 21

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

RGD

PMID:27188433 PMID:22638884

RGD:152995510, RGD:152998900

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

G

MAX interactor 1, dimerization protein

RGD

NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:252,323,303...252,383,681

G

MYD88, innate immune signal transduction adaptor

mRNA:splice variants:esophagus (human)

RGD

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

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

protein:increased expression:esophagus (human)

RGD

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phosphatase and tensin homolog

treatment

human gene and cells in a mouse model
protein:decreased expression:esophagus (human)

RGD

PMID:20378992 PMID:27188433

RGD:127285592, RGD:152995510

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

suppressor of cytokine signaling 1

mRNA,protein:decreased expression:esophagus:

RGD

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

transforming growth factor, beta receptor 2

ClinVar Annotator: match by term: Esophagus cancer

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

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

G

TNF alpha induced protein 3

disease_progression
severity

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

RGD

PMID:25354935 PMID:26598072

RGD:151347597, RGD:11075880

NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282

G

tumor protein p53

ClinVar Annotator: match by term: Esophagus cancer

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

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

WW domain-containing oxidoreductase

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

G

X-ray repair cross complementing 1

susceptibility

DNA:missense mutation:exon 9: p.T304A, c.910A>G (human)

RGD

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

esophageal carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

severity

DNA:SNPs:introns: (rs3803304, rs1130214)

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

baculoviral IAP repeat-containing 7

disease_progression

mRNA:increased expression:esophagus (human)

NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Carcinoma of esophagus

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

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

cyclin-dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Esophageal carcinoma

PMID:25741868 PMID:26619011 PMID:28492532

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

catenin beta 1

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

PMID:9065402 PMID:9065403 PMID:9294210 PMID:10027390 PMID:10192393 More...

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

DCC netrin 1 receptor

ClinVar Annotator: match by term: Esophageal carcinoma, somatic

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

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Carcinoma of esophagus

PMID:15623594 PMID:16205628 PMID:16707764 PMID:16863509 PMID:17653080 More...

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

G

E1A binding protein p300

ClinVar Annotator: match by term: Carcinoma of esophagus

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Carcinoma of esophagus

PMID:16397024 PMID:23220880 PMID:25157968 PMID:26619011

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

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Esophageal carcinoma

PMID:25741868 PMID:26619011

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

G

fibroblast growth factor receptor 2

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

G

growth factor receptor bound protein 7

exacerbates

mRNA:increased expression:esophagus mucosa (human)

RGD

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

G

HRas proto-oncogene, GTPase

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

G

HtrA serine peptidase 1

disease_progression

mRNA,protein:decreased expression:esophagus (human)

RGD

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

G

Janus kinase 2

treatment

associated with Immune Deficiency Disease, human cells in mouse model

RGD

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

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Esophageal carcinoma

PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 More...

NCBI chr 4:178,185,418...178,218,484

G

leucine rich repeat containing 56

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

G

mitogen activated protein kinase kinase 7

exacerbates

mRNA:decreased expression:espohagus (human)

RGD

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

G

MYC proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Carcinoma of esophagus

PMID:25157968 PMID:26619011

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

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

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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

ras homolog family member A

ClinVar Annotator: match by term: Esophageal carcinoma

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

solute carrier family 7 member 5

severity

RGD

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

G

SMAD family member 4

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

G

signal transducer and activator of transcription 3

treatment

associated with Immune Deficiency Disease, human cells in mouse model

RGD

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

tumor protein p53

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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

Esophageal Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

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

G

actin, beta

CTD Direct Evidence: marker/mechanism

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

G

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

CTD Direct Evidence: marker/mechanism

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

G

A-kinase anchoring protein 13

CTD Direct Evidence: marker/mechanism

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

G

aldehyde dehydrogenase 2 family member

CTD Direct Evidence: marker/mechanism

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

G

arachidonate 15-lipoxygenase

CTD Direct Evidence: marker/mechanism

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

G

aquaporin 3 (Gill blood group)

CTD Direct Evidence: marker/mechanism

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

G

BCL2 associated X, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

Bcl-2 binding component 3

CTD Direct Evidence: therapeutic

NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

BCL2-related protein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998

G

basigin

CTD Direct Evidence: marker/mechanism

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

G

caspase 8

CTD Direct Evidence: marker/mechanism

PMID:17450141 PMID:21472143

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin H

CTD Direct Evidence: marker/mechanism

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

G

cadherin 13

CTD Direct Evidence: marker/mechanism

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

G

cyclin-dependent kinase inhibitor 1A

disease_progression

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 2A

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

CTD
RGD

PMID:18410530 PMID:10969811

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

crystallin, alpha B

CTD Direct Evidence: marker/mechanism

NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

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

G

C-X-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

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

G

cytochrome P450, family 19, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

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

G

cytochrome P450, family 26, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

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

G

DCC netrin 1 receptor

CTD Direct Evidence: marker/mechanism

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

G

epidermal growth factor receptor

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

G

enolase 1

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

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

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

G

Fas cell surface death receptor

protein:decreased expression:esophageal mucosa:

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

protein:increased expression:esophageal mucosa:

RGD

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

G

glyceraldehyde-3-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

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

G

ghrelin and obestatin prepropeptide

CTD Direct Evidence: marker/mechanism

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

G

G protein subunit gamma 7

CTD Direct Evidence: marker/mechanism

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

G

glutamate ionotropic receptor kainate type subunit 2

CTD Direct Evidence: marker/mechanism

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

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion: :

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

kinase insert domain receptor

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

G

galectin 3

CTD Direct Evidence: marker/mechanism

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

G

leucine zipper tumor suppressor 1

CTD Direct Evidence: marker/mechanism

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

G

macrophage immunometabolism regulator

CTD Direct Evidence: marker/mechanism

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

G

mitogen activated protein kinase kinase kinase 3

CTD Direct Evidence: marker/mechanism

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

G

membrane associated ring-CH-type finger 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:149,415,642...149,530,771
Ensembl chr 4:149,416,071...149,530,770

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

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

G

microRNA 145

CTD Direct Evidence: marker/mechanism

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

G

microRNA 200c

CTD Direct Evidence: marker/mechanism

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

G

microRNA 21

CTD Direct Evidence: marker/mechanism

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

G

microRNA 98

CTD Direct Evidence: marker/mechanism

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

G

mutL homolog 3

CTD Direct Evidence: marker/mechanism

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

G

matrix metallopeptidase 14

CTD Direct Evidence: marker/mechanism

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

G

MYC proto-oncogene, bHLH transcription factor

treatment

RGD

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

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

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

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

G

nuclear receptor subfamily 1, group I, member 2

CTD Direct Evidence: marker/mechanism

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

G

prohibitin 1

CTD Direct Evidence: marker/mechanism

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

G

peroxiredoxin 1

CTD Direct Evidence: marker/mechanism

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

G

peroxiredoxin 2

CTD Direct Evidence: marker/mechanism

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

G

prostaglandin-endoperoxide synthase 1

CTD Direct Evidence: marker/mechanism

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

G

prostaglandin-endoperoxide synthase 2

susceptibility

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

CTD
RGD

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

RGD:5135528, RGD:5687745

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

G

ring finger protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr12:8,816,797...8,826,870
Ensembl chr12:8,816,833...8,826,847

G

reprimo, TP53 dependent G2 arrest mediator homolog

CTD Direct Evidence: marker/mechanism

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

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

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

G

serpin family B member 3

CTD Direct Evidence: marker/mechanism

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

G

stratifin

CTD Direct Evidence: marker/mechanism

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

G

solute carrier family 30 member 7

CTD Direct Evidence: marker/mechanism

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

G

SET and MYND domain containing 2

CTD Direct Evidence: marker/mechanism

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

G

snail family transcriptional repressor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:11053990 PMID:15986332

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

somatostatin

CTD Direct Evidence: marker/mechanism

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

G

transforming growth factor, beta receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981

G

TNF receptor superfamily member 10b

CTD Direct Evidence: marker/mechanism

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

G

tumor protein p53

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

CTD
RGD

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

RGD:8547873, RGD:11075085

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tropomyosin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

G

tropomyosin 4

CTD Direct Evidence: marker/mechanism

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

G

tRNA methyltransferase 11 homolog

CTD Direct Evidence: marker/mechanism

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

G

Tu translation elongation factor, mitochondrial

CTD Direct Evidence: marker/mechanism

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

G

ubiquitin C-terminal hydrolase L1

CTD Direct Evidence: marker/mechanism

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

G

Wnt inhibitory factor 1

CTD Direct Evidence: marker/mechanism

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

G

WW domain-containing oxidoreductase

CTD Direct Evidence: marker/mechanism

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

G

X-linked inhibitor of apoptosis

CTD Direct Evidence: marker/mechanism

NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700

G

X-ray repair cross complementing 3

CTD Direct Evidence: marker/mechanism

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

Esophageal Stenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

superoxide dismutase 2

CTD Direct Evidence: therapeutic

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

esophageal varix

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

associated with ascites

RGD

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

G

somatostatin

CTD Direct Evidence: therapeutic

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

esophagitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

protein:increased expression:esophagus:

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

interleukin 13

RGD

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

G

interleukin 4 receptor

susceptibility

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

RGD

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

G

prostaglandin-endoperoxide synthase 2

associated with carcinoma, non-small-cell lung;

RGD

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

G

solute carrier family 7 member 5

protein:increased expression:epithelium

RGD

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

G

superoxide dismutase 2

CTD Direct Evidence: therapeutic

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

tumor necrosis factor

susceptibility

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

RGD

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

G

transient receptor potential cation channel, subfamily V, member 1

CTD Direct Evidence: marker/mechanism

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

esophagus adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

onset

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

RGD

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

G

AT-rich interaction domain 1A

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23525077 PMID:31906887

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

G

BARX homeobox 1

CTD Direct Evidence: marker/mechanism

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

G

BCL2, apoptosis regulator

onset

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

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

beclin 1

RGD

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

G

baculoviral IAP repeat-containing 3

treatment

RGD

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

caspase 8

onset

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

RGD

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

cell division cycle 5-like

disease_progression

protein:increased expression:esophageal mucosa (human)

RGD

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

G

cyclin-dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

CREB regulated transcription coactivator 1

CTD Direct Evidence: marker/mechanism

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

G

cathepsin B

RGD

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

G

cytochrome P450, family 19, subfamily a, polypeptide 1

onset

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

G

cytochrome P450, family 24, subfamily a, polypeptide 1

treatment

mRNA:increased expression:esophagus (human)

RGD

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

G

dedicator of cytokinesis 2

CTD Direct Evidence: marker/mechanism

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

G

engulfment and cell motility 1

CTD Direct Evidence: marker/mechanism

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

G

empty spiracles homeobox 2

protein:decreased expression:esophagus (human)

RGD

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

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

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

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

Fas cell surface death receptor

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

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

forkhead box A1

protein:increased expression:esophagus

RGD

NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188

G

forkhead box P1

CTD Direct Evidence: marker/mechanism
DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)

CTD
RGD

PMID:24121790 PMID:26383589

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

G

ghrelin and obestatin prepropeptide

onset

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

G

glutathione peroxidase 3

susceptibility

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

RGD

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

G

growth factor receptor bound protein 7

exacerbates
treatment

human cells in a mouse model

RGD

PMID:32737994 PMID:31809243

RGD:151347656, RGD:151347659

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

G

glutathione S-transferase mu 1

DNA:deletion:: (human)

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

DNA:deletion:: (human)

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

kinase insert domain receptor

onset

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

RGD

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

G

microRNA 21

disease_progression

RGD

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

G

matrix metallopeptidase 1

susceptibility

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

G

matrix metallopeptidase 12

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

G

matrix metallopeptidase 14

onset

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

RGD

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

G

matrix metallopeptidase 3

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

G

matrix metallopeptidase 9

protein:increased expression:esophagus

RGD

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

G

neural EGFL like 1

CTD Direct Evidence: marker/mechanism

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

G

nitric oxide synthase 3

onset

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

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

prostaglandin-endoperoxide synthase 1

mRNA,protein:increased expression:Esophagus

RGD

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

G

prostaglandin-endoperoxide synthase 2

disease_progression

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

CTD
RGD

PMID:12507933 PMID:12055587

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

G

solute carrier family 22, member 18

disease_progression

DNA:hypermethylation: (human)

RGD

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

G

SMAD family member 4

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

G

smoothened, frizzled class receptor

treatment

RGD

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

G

superoxide dismutase 2

RGD

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

spartin

CTD Direct Evidence: marker/mechanism

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

G

toll-like receptor 4

CTD Direct Evidence: marker/mechanism

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

G

TNF receptor superfamily member 10b

onset

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

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

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

vitamin D receptor

susceptibility
disease_progression

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

RGD

PMID:25910066 PMID:24951052

RGD:11055189, RGD:13432070

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

esophagus small cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 14

protein:increased expression:esophagus

RGD

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

esophagus squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 2

CTD Direct Evidence: marker/mechanism

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

G

adenylate cyclase activating polypeptide 1

CTD Direct Evidence: marker/mechanism

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

G

ajuba LIM protein

CTD Direct Evidence: marker/mechanism

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

G

AKT serine/threonine kinase 1

disease_progression

protein:increased expression:esophagus (human)

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

aldehyde dehydrogenase 2 family member

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

G

annexin A1

CTD Direct Evidence: marker/mechanism

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

G

ATM serine/threonine kinase

disease_progression

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

RGD

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

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

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

G

axin 1

disease_progression

protein:decreased expression:esophagus (human)

RGD

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

G

alpha-2-glycoprotein 1, zinc-binding

disease_progression

RGD

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

G

antizyme inhibitor 1

RGD

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

G

beta-2 microglobulin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

biliverdin reductase B

CTD Direct Evidence: marker/mechanism

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

G

BMI1 proto-oncogene, polycomb ring finger

RGD

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

G

bone morphogenetic protein 6

protein:increased expression:esophagus

RGD

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

G

BRCA1, DNA repair associated

DNA:SNP: :rs799917 (human)

RGD

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

BRCA2, DNA repair associated

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

RGD

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

bone marrow stromal cell antigen 2

disease_progression

RGD

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

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547

G

calreticulin

ameliorates

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

CTD
RGD

PMID:21517111 PMID:19684620 PMID:23814025

RGD:150521703, RGD:150521679

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

G

capping actin protein of muscle Z-line subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480

G

carbonic anhydrase 1

CTD Direct Evidence: marker/mechanism

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

G

carbonic anhydrase 12

severity

RGD

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

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

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

G

caspase 8

exacerbates

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

RGD

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

chromobox 8

severity

mRNA:increased expression:esophagus:

RGD

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

G

coiled-coil alpha-helical rod protein 1

CTD Direct Evidence: marker/mechanism

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

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin-dependent kinase inhibitor 1A

CTD Direct Evidence: therapeutic

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2B

DNA:SNPs: :rs615552, rs573687 (human)

RGD

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

G

cofilin 1

CTD Direct Evidence: marker/mechanism

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

G

cholinergic receptor nicotinic alpha 5 subunit

susceptibility

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

RGD

PMID:23844051 PMID:27610024

RGD:150524358, RGD:151361143

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

G

cholinergic receptor nicotinic alpha 7 subunit

exacerbates
disease_progression

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

G

cholinergic receptor nicotinic beta 4 subunit

mRNA:increased expression:esophagus (human)

RGD

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

G

chloride intracellular channel 1

CTD Direct Evidence: marker/mechanism

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

G

CLPTM1-like

susceptibility
no_association

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

RGD

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

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

G

collagen type XIV alpha 1 chain

disease_progression

DNA:hypermethylation

RGD

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

G

cellular retinoic acid binding protein 1

CTD Direct Evidence: marker/mechanism

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

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

colony stimulating factor 1 receptor

mRNA:decreased expression:esophagus squamous epithelium (human)

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

G

cystatin B

CTD Direct Evidence: marker/mechanism

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

G

catenin beta 1

ClinVar Annotator: match by term: Esophageal squamous cell carcinoma

PMID:25157968 PMID:25741868 PMID:26619011

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

C-X-C motif chemokine receptor 4

disease_progression

protein:increased expression:esophagus squamous epithelium (human)

RGD

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

G

cytochrome P450, family 1, subfamily a, polypeptide 1

RGD

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

G

cytochrome P450, family 1, subfamily b, polypeptide 1

protein:increased expression:esophagus (rat)

RGD

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

G

cytochrome P450, family 24, subfamily a, polypeptide 1

susceptibility

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

RGD

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

G

cytochrome P450, family 26, subfamily b, polypeptide 1

CTD Direct Evidence: marker/mechanism

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

G

DAB2 interacting protein

severity

protein:decreased expression:esophagus (human)

RGD

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

G

DCC netrin 1 receptor

DNA:deletions:multiple (human)

OMIM
RGD

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

G

death inducer-obliterator 1

CTD Direct Evidence: marker/mechanism

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

G

DNA methyltransferase 3 beta

disease_progression

protein:increased expression:nucleus:

RGD

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

G

dipeptidylpeptidase 4

protein:increased expression: esophagus

RGD

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

G

ephrin B2

severity
exacerbates
ameliorates

mRNA:increased expression:esophagus squamous epithelium (human)
mRNA,protein:increased expression:esophagus squamous epithelium (human)
human cells in mouse model

RGD

PMID:17611172 PMID:31885720 PMID:29190834

RGD:153300947, RGD:153300949, RGD:153300948

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

G

epidermal growth factor receptor

severity

protein:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma

CTD
ClinVar
RGD

PMID:21947696 PMID:23485129 PMID:25157968 PMID:10385363

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

G

euchromatic histone lysine methyltransferase 1

disease_progression

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

G

euchromatic histone lysine methyltransferase 2

disease_progression

protein:increased expression:esophagus mucosa:

RGD

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

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

PMID:17965222 PMID:25151357

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

erythrocyte membrane protein band 4.1-like 3

disease_progression

DNA:hypermethylation

RGD

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

G

EPH receptor B4

exacerbates

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

RGD

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

G

erb-b2 receptor tyrosine kinase 4

susceptibility
disease_progression

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

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

RGD

PMID:25613619 PMID:21165554

RGD:126781697, RGD:126781701

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

FA complementation group A

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

RGD

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

G

fibroblast activation protein, alpha

protein:increased expression: esophagus

RGD

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

G

fatty acid synthase

CTD Direct Evidence: marker/mechanism

NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261

G

FAT atypical cadherin 1

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

CTD
RGD

PMID:25151357 PMID:29365412 PMID:24590895

RGD:151347646, RGD:151347630

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

G

FAT atypical cadherin 2

CTD Direct Evidence: marker/mechanism

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

G

FAT atypical cadherin 3

CTD Direct Evidence: marker/mechanism

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

G

FAT atypical cadherin 4

CTD Direct Evidence: marker/mechanism

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

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

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

G

FES proto-oncogene, tyrosine kinase

exacerbates

DNA:hypermethylation: (human)

RGD

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

G

fibroblast growth factor receptor 4

treatment

RGD

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

G

FKBP prolyl isomerase 1A

CTD Direct Evidence: marker/mechanism

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

G

forkhead box A1

onset

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

RGD

PMID:27050876 PMID:29788741

RGD:151665743, RGD:151665759

NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188

G

far upstream element binding protein 1

exacerbates

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

G

GDP dissociation inhibitor 2

CTD Direct Evidence: marker/mechanism

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

G

glyoxalase 1

CTD Direct Evidence: marker/mechanism

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

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation

RGD

PMID:30018730 PMID:25050929

RGD:151665494, RGD:151665741

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

G

growth factor receptor bound protein 7

exacerbates

protein:increased expression:esophagus (human)

RGD

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

G

glutathione S-transferase mu 1

no_association

RGD

PMID:11860825 PMID:17916905 PMID:25432134

RGD:14700943, RGD:14700982, RGD:14700948

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase omega 1

CTD Direct Evidence: marker/mechanism

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

G

glutathione S-transferase pi 1

DNA:polymorphism: :p.I105V (human)

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17173682 PMID:25432134 PMID:17916905

RGD:14700948, RGD:14700982

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

H19 imprinted maternally expressed transcript

CTD Direct Evidence: marker/mechanism

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

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

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

G

high mobility group box 1

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

G

high mobility group nucleosome binding domain 5

CTD Direct Evidence: marker/mechanism

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

G

homeo box B7

severity

protein:increased expression:esophageal mucosa (human)

RGD

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

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

HtrA serine peptidase 1

exacerbates
ameliorates

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

RGD

PMID:23079781 PMID:23079781

RGD:152975633, RGD:152975633

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

G

isocitrate dehydrogenase (NADP(+)) 2

severity

human cells in mouse model

RGD

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

G

Janus kinase 2

severity

protein:increased phosphorylation:esophagus squamous epithelium (human)

RGD

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

G

JunB proto-oncogene, AP-1 transcription factor subunit

exacerbates

protein:increased expression:esophagus (human)

RGD

PMID:30227324 PMID:19758438

RGD:151347669, RGD:151347672

NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035

G

lysine acetyltransferase 2B

mRNA:decreased expression:esophagus (human)

RGD

NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064

G

lysine demethylase 4C

severity
susceptibility

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

G

lysine demethylase 5B

severity

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

RGD

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

G

lysine demethylase 6A

ameliorates

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

G

lysine methyltransferase 2C

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

CTD
RGD

PMID:25151357 PMID:25151357

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

G

lysine methyltransferase 2D

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 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

G

keratin 13

CTD Direct Evidence: marker/mechanism

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

G

keratin 14

CTD Direct Evidence: marker/mechanism

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

G

keratin 16

RGD

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

G

keratin 17

CTD Direct Evidence: marker/mechanism

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

G

keratin 19

CTD Direct Evidence: marker/mechanism

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

G

keratin 7

disease_progression

RGD

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

G

lysyl oxidase-like 2

CTD Direct Evidence: marker/mechanism

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

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

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

G

leucine zipper tumor suppressor 1

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

G

mitotic arrest deficient 2 like 1

CTD Direct Evidence: marker/mechanism

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

G

mitogen-activated protein kinase kinase kinase 1

sexual_dimorphism

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

RGD

NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463

G

methyl-CpG binding domain 4 DNA glycosylase

susceptibility

DNA:snp:cds:p.E346K (rs140693) (human)
DNA:snp:intron:IVS5-140A>G (rs3138355) (human)

RGD

PMID:15205355 PMID:25162968

RGD:9588976, RGD:9588980

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

G

O-6-methylguanine-DNA methyltransferase

disease_progression

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

CTD
RGD

PMID:25520135 PMID:21674174

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

G

microRNA 10a

miRNA:increased expression:esophagus squamous epithelium (human)

RGD

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

G

microRNA 127

RNA:decreased expression:esophagus (human)

RGD

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

G

microRNA 193a

exacerbates

miRNA:decreased expression:esophagus (human)

RGD

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

G

microRNA 217

CTD Direct Evidence: marker/mechanism

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

G

microRNA 31

ameliorates

RGD

PMID:32123074 PMID:21658006

RGD:127285381, RGD:152998938

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

G

microRNA 423

CTD Direct Evidence: marker/mechanism

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

G

microRNA 494

mRNA:decreased expression:esophagus

RGD

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

G

mutL homolog 1

disease_progression

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

RGD

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

G

matrix metallopeptidase 14

protein:increased expression: esophagus

RGD

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

G

matrix metallopeptidase 2

protein:increased activity: esophagus

RGD

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

G

matrix metallopeptidase 9

protein:increased activity: esophagus

RGD

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

G

mutS homolog 2

disease_progression

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

RGD

PMID:22265839 PMID:21674174 PMID:24366688

RGD:126790560, RGD:126790574, RGD:126790573

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

G

metallothionein 1

CTD Direct Evidence: marker/mechanism

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

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

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

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

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

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

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

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

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

G

8-oxoguanine DNA glycosylase

CTD Direct Evidence: marker/mechanism

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

G

Paxip1-associated glutamate-rich protein 1

mRNA, protein:decreased expression:esophagus (human)

RGD

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

G

PBX homeobox 3

RNA:increased expression:esophagus squamous epithelium (human)

RGD

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

G

profilin 1

CTD Direct Evidence: marker/mechanism

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

G

phospholipase C, epsilon 1

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

G

peroxiredoxin 1

CTD Direct Evidence: marker/mechanism

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

G

proteasome 20S subunit beta 9

disease_progression

RGD

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

G

proteasome activator subunit 1

CTD Direct Evidence: marker/mechanism

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

G

proteasome activator subunit 2

CTD Direct Evidence: marker/mechanism

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

G

patched 1

disease_progression

RGD

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

G

prostaglandin-endoperoxide synthase 2

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

G

protein tyrosine phosphatase, receptor type, T

susceptibility

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

RGD

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

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

RPTOR independent companion of MTOR, complex 2

disease_progression
severity

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

RGD

PMID:30119206 PMID:32642408 PMID:28132115

RGD:152995460, RGD:152995512, RGD:152995470

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

G

ring finger protein 6

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

NCBI chr12:8,816,797...8,826,870
Ensembl chr12:8,816,833...8,826,847

G

RUNX family transcription factor 1

DNA:SNP: :rs2014300 (human)

RGD

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

G

RUNX family transcription factor 2

mRNA:increased expression:esophagus mucosa

RGD

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

G

RUNX family transcription factor 3

disease_progression

mRNA:decreased expression:esophagus mucosa

RGD

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

G

spalt-like transcription factor 4

CTD Direct Evidence: marker/mechanism

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

G

serpin family B member 3

CTD Direct Evidence: marker/mechanism

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

G

SET domain containing 5

disease_progression

RGD

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

G

stratifin

CTD Direct Evidence: marker/mechanism

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

G

solute carrier family 16 member 10

protein:increased expression:esophagus

RGD

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

G

solute carrier family 1 member 5

disease_progression

protein:increased expression:esophagus

RGD

PMID:33609949 PMID:26936531

RGD:151361149, RGD:11532833

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

G

solute carrier family 39 member 6

CTD Direct Evidence: therapeutic

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

G

solute carrier family 52 member 3

CTD Direct Evidence: marker/mechanism

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

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:esophagus

RGD

PMID:31726270 PMID:26936531 PMID:33609949

RGD:151361144, RGD:11532833, RGD:151361149

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

G

suppressor of cytokine signaling 1

severity
treatment

mRNA:decreased expression:esophagus

RGD

PMID:21385099 PMID:31728180 PMID:28233302

RGD:150573691, RGD:150573815, RGD:150573812

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:18167182 PMID:21517111

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

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

G

spen family transcriptional repressor

associated with Neoplasm Metastasis; DNA:mutations

RGD

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

G

stromal interaction molecule 1

exacerbates

protein:increased expression:esophagus (human)

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

G

stimulator of interferon response cGAMP interactor 1

CTD Direct Evidence: marker/mechanism

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

G

sulfotransferase family 1A member 1

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

RGD

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

G

transgelin

CTD Direct Evidence: marker/mechanism

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

G

transporter 1, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

RGD

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

G

transporter 2, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

RGD

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

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489

G

telomerase reverse transcriptase

susceptibility
no_association

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

RGD

PMID:26716642 PMID:15112252 PMID:25007268

RGD:11572962, RGD:152977757, RGD:150530488

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

G

tet methylcytosine dioxygenase 2

severity

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

G

tet methylcytosine dioxygenase 3

mRNA:decreased expression:esophagus squamous epithelium (human)

RGD

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

G

transforming growth factor, beta receptor 2

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

G

TNF alpha induced protein 3

severity

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

RGD

NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282

G

TNF alpha induced protein 8

CTD Direct Evidence: marker/mechanism

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

G

tenascin XB

CTD Direct Evidence: marker/mechanism

G

tumor protein p53

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

CTD
RGD

PMID:16543248 PMID:25151357 PMID:28789369

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

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

G

tropomyosin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

G

tropomyosin 2

CTD Direct Evidence: marker/mechanism

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

G

thioredoxin domain containing 17

CTD Direct Evidence: marker/mechanism

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

G

thymidine phosphorylase

CTD Direct Evidence: marker/mechanism

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

G

ubiquitin specific peptidase 8

CTD Direct Evidence: marker/mechanism

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

G

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

DNA:mutations:multiple (human)

RGD

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

G

VENT homeobox

CTD Direct Evidence: marker/mechanism

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

G

WD repeat containing, antisense to TP53

disease_progression

RGD

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

G

WW domain-containing oxidoreductase

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

OMIM
ClinVar
CTD
RGD

PMID:11956080 PMID:25526675 PMID:28492532 PMID:11956080

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

G

exportin 1

exacerbates

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

RGD

PMID:24898882 PMID:25148895

RGD:151667431, RGD:151667436

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

G

X-ray repair cross complementing 1

no_association
susceptibility
treatment

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

G

zinc finger CCHC-type containing 12

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYCN proto-oncogene, bHLH transcription factor

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

PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 More...

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

Feingold Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYCN proto-oncogene, bHLH transcription factor

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

4-aminobutyrate aminotransferase

CTD Direct Evidence: marker/mechanism

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

G

ATP binding cassette subfamily C member 8

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

G

actin-like 6A

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

G

C-C motif chemokine ligand 26

protein:increased expression:esophagus (human)

RGD

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

G

GDP-mannose pyrophosphorylase A

ClinVar Annotator: match by term: Gastroesophageal reflux

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

G

phospholipase A2 group IIA

RGD

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

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

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

G

ryanodine receptor 1

ClinVar Annotator: match by term: Gastroesophageal reflux

PMID:25741868 PMID:28492532

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

G

tachykinin, precursor 1

CTD Direct Evidence: marker/mechanism

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

G

toll-like receptor 2

protein:decreased expression:sputum, macrophage

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

tumor protein p63

OMIM:109350

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

G

zinc finger protein 469

ClinVar Annotator: match by term: Gastroesophageal reflux

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

Martinez-Frias Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulatory factor X, 6

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

guanylate cyclase 1 soluble subunit alpha 1

ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia

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

NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671

Mungan Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAD21 cohesin complex component

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

rhomboid 5 homolog 2

OMIM:148500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER | ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome | ClinVar Annotator: match by term: Tylosis with esophageal cancer

OMIM
MouseDO
CTD
ClinVar

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

protein:increased expression:esophagus:

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

C-C motif chemokine ligand 5

associated with Asthma;mRNA:increased expression:esophagus

RGD

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

G

claudin 3

protein:altered expression:epithelial cell, esophagus:

RGD

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

G

claudin 4

protein:altered localization:esophagus epithelium, cytoplasm

RGD

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

G

epidermal growth factor receptor

mRNA, protein:increased expression:esophagus, basal cell

RGD

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

G

F11 receptor

treatment

RGD

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

G

interleukin 13

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

RGD

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

G

interleukin 5

associated with asthma; mRNA:increased expression:esophagus

RGD

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

G

microRNA 223

RNA:increased expression: esophagus

RGD

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

G

microRNA 29a

RGD

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

G

proteasome 20S subunit beta 9

protein:decreased expression:esophageal epithelium (rat)

RGD

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

G

prostaglandin E synthase

protein:increased expression:esophagus

RGD

NCBI chr 3:14,177,892...14,189,236

G

tight junction protein 1

RGD

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

G

tumor necrosis factor

RGD

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

G

vitamin D receptor

susceptibility

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

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

syndromic microphthalmia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin-like 6A

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

G

coiled-coil domain 39 molecular ruler complex subunit

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

G

DnaJ heat shock protein family (Hsp40) member C19

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

G

FMR1 autosomal homolog 1

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

G

mitochondrial ribosomal protein L47

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

G

NADH:ubiquinone oxidoreductase subunit B5

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

G

peroxisomal biogenesis factor 5-like

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

G

SIX homeobox 6

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

PMID:25741868 PMID:28492532

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

G

Six6 opposite strand transcript 1

ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia

PMID:25741868 PMID:28492532

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

G

SRY-box transcription factor 2

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

OMIM
ClinVar
CTD

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

G

tetratricopeptide repeat domain 14

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

G

ubiquitin specific peptidase 13

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adducin 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

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

G

APC membrane recruitment protein 3

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

G

adaptor related protein complex 1 subunit gamma 2

ClinVar Annotator: match by term: Tracheoesophageal fistula

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

G

APC regulator of WNT signaling pathway 2

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

G

bone morphogenetic protein 4

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Tracheoesophageal fistula

PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 PMID:9667259 More...

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

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

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

G

elongation factor Tu GTP binding domain containing 2

ClinVar Annotator: match by term: Tracheoesophageal fistula

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

G

fibroblast growth factor receptor 2

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

RGD

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

G

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

ClinVar Annotator: match by term: Tracheoesophageal fistula

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

G

glutaminase

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

G

general transcription factor IIIC subunit 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 1:180,203,995...180,270,201
Ensembl chr 1:180,203,995...180,270,201

G

interferon regulatory factor 8

ClinVar Annotator: match by term: Tracheoesophageal fistula

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

G

intersectin 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

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

G

kelch-like family member 17

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

G

leucine rich adaptor protein 1-like

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

G

partner and localizer of BRCA2

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

G

protocadherin 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

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

G

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

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

G

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

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

G

RNA polymerase II subunit B

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr14:30,797,228...30,834,916
Ensembl chr14:30,797,228...30,834,916

G

protein tyrosine phosphatase, non-receptor type 14

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088

G

RAB3 GTPase activating non-catalytic protein subunit 2

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478

G

sodium channel and clathrin linker 1

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

G

SMAD family member 6

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

G

tectonin beta-propeller repeat containing 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr12:10,391,587...10,420,462
Ensembl chr12:10,391,696...10,419,611

G

toll-like receptor 9

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

G

WD repeat and FYVE domain containing 3

ClinVa