RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: gastroesophageal reflux disease
Accession: DOID:8534
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Definition: Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER.
Synonyms: exact_synonym: Esophageal Reflux; GASTROESOPHAGEAL REFLUX, PEDIATRIC; GER; GERD; GERD - gastro-esophageal reflux disease; Gastric Acid Reflux; Gastric Acid Reflux Disease; Gastro Esophageal Reflux; acid reflux; gastresophageal reflux; gastro-oesophageal reflux; gastroesophageal reflux
primary_id: MESH:D005764
alt_id: OMIM:109350
xref: EFO:0003948 ; ICD10CM:K21 ; ICD10CM:K21.9 ; ICD9CM:530.81 ; NCI:C26781
For additional species annotation, visit the
Alliance of Genome Resources .
G
Abat
4-aminobutyrate aminotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21552517
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Actl6a
actin-like 6A
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:25741868 PMID:28649782
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
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Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:esophagus (human)
RGD
PMID:17900656
RGD:11081162
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Gmppa
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:24035193
NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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Itga3
integrin subunit alpha 3
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:25741868
NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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Pla2g2a
phospholipase A2 group IIA
ISO
RGD
PMID:19672667
RGD:6482726
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21451212
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Tac1
tachykinin, precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20616304
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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Tlr2
toll-like receptor 2
ISO
protein:decreased expression:sputum, macrophage
RGD
PMID:21426732
RGD:7240539
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tp63
tumor protein p63
ISS
OMIM:109350
MouseDO
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:25741868
NCBI chr19:50,282,337...50,324,010
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