gastroesophageal reflux Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description 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. (Experimental Factor Ontology, EFO_0003948)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002020
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Genes

45 genes associated with the gastroesophageal reflux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
AMER1 APC membrane recruitment protein 1
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ASXL1 additional sex combs like transcriptional regulator 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDC6 cell division cycle 6
CDKL5 cyclin-dependent kinase-like 5
CHMP1A charged multivesicular body protein 1A
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DHCR7 7-dehydrocholesterol reductase
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FBXL4 F-box and leucine-rich repeat protein 4
FOXG1 forkhead box G1
HDAC8 histone deacetylase 8
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
KIAA2022 KIAA2022
LTBP4 latent transforming growth factor beta binding protein 4
MCEE methylmalonyl CoA epimerase
MECP2 methyl CpG binding protein 2
MID1 midline 1
NALCN sodium leak channel, non selective
NIPBL Nipped-B homolog (Drosophila)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NRXN1 neurexin 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PYCR1 pyrroline-5-carboxylate reductase 1
RAD21 RAD21 homolog (S. pombe)
SALL1 spalt-like transcription factor 1
SEC23A Sec23 homolog A (S. cerevisiae)
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMC3 structural maintenance of chromosomes 3
TCF4 transcription factor 4
TECPR2 tectonin beta-propeller repeat containing 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TSPYL1 TSPY-like 1
WNK1 WNK lysine deficient protein kinase 1