Gastroesophageal Reflux Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0017168
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Genes

429 genes associated with the disease Gastroesophageal Reflux Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AARS1 alanyl-tRNA synthetase 1
ABAT 4-aminobutyrate aminotransferase
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACE angiotensin I converting enzyme
ACTL6B actin-like 6B
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAR adenosine deaminase, RNA-specific
ADNP activity-dependent neuroprotector homeobox
ADRB2 adrenoceptor beta 2, surface
AFF3 AF4/FMR2 family, member 3
AFF4 AF4/FMR2 family, member 4
AGR2 anterior gradient 2
AGRN agrin
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
AMER1 APC membrane recruitment protein 1
ANO10 anoctamin 10
AP3B2 adaptor-related protein complex 3, beta 2 subunit
APOA4 apolipoprotein A-IV
APOB apolipoprotein B
ARF1 ADP-ribosylation factor 1
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARV1 ARV1 homolog (S. cerevisiae)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASCC1 activating signal cointegrator 1 complex subunit 1
ASCL1 achaete-scute family bHLH transcription factor 1
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ATAD1 ATPase family, AAA domain containing 1
ATN1 atrophin 1
ATP11A ATPase, class VI, type 11A
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ATP2A3 ATPase, Ca++ transporting, ubiquitous
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN2 ataxin 2
BARX1 BARX homeobox 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BEST3 bestrophin 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTN2A1 butyrophilin, subfamily 2, member A1
CA1 carbonic anhydrase I
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit
CALR calreticulin
CAMK2B calcium/calmodulin-dependent protein kinase II beta
CAMTA1 calmodulin binding transcription activator 1
CAPN14 calpain 14
CAV1 caveolin 1, caveolae protein, 22kDa
CCDC22 coiled-coil domain containing 22
CCDC47 coiled-coil domain containing 47
CCK cholecystokinin
CCL26 chemokine (C-C motif) ligand 26
CCN1 cellular communication network factor 1
CCN2 cellular communication network factor 2
CCND1 cyclin D1
CCR6 chemokine (C-C motif) receptor 6
CDC6 cell division cycle 6
CDKL5 cyclin-dependent kinase-like 5
CDX1 caudal type homeobox 1
CDX2 caudal type homeobox 2
CHAMP1 chromosome alignment maintaining phosphoprotein 1
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CLCN4 chloride channel, voltage-sensitive 4
CLDN1 claudin 1
CLDN3 claudin 3
CLDN7 claudin 7
CLIP2 CAP-GLY domain containing linker protein 2
CLOCK clock circadian regulator
CLTC clathrin, heavy chain (Hc)
CNKSR2 connector enhancer of kinase suppressor of Ras 2
CNTNAP1 contactin associated protein 1
CNTNAP2 contactin associated protein-like 2
COG7 component of oligomeric golgi complex 7
COL13A1 collagen, type XIII, alpha 1
COL3A1 collagen, type III, alpha 1
COMT catechol-O-methyltransferase
COX1
COX2
CPLX1 complexin 1
CPSF4 cleavage and polyadenylation specific factor 4, 30kDa
CRNN cornulin
CSPP1 centrosome and spindle pole associated protein 1
CTBP1 C-terminal binding protein 1
CTHRC1 collagen triple helix repeat containing 1
CTSW cathepsin W
CXCL8 chemokine (C-X-C motif) ligand 8
CYFIP2 cytoplasmic FMR1 interacting protein 2
CYLD cylindromatosis (turban tumor syndrome)
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DEAF1 DEAF1 transcription factor
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DKK1 dickkopf WNT signaling pathway inhibitor 1
DKK4 dickkopf WNT signaling pathway inhibitor 4
DNM1 dynamin 1
DPP9 dipeptidyl-peptidase 9
DPYD dihydropyrimidine dehydrogenase
DSP desmoplakin
EBF3 early B-cell factor 3
EBI3 Epstein-Barr virus induced 3
ECI1 enoyl-CoA delta isomerase 1
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EFNB2 ephrin-B2
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EIF6 eukaryotic translation initiation factor 6
ELN elastin
ELP1 elongator acetyltransferase complex subunit 1
ERCC2 excision repair cross-complementation group 2
ERMARD ER membrane-associated RNA degradation
EXT2 exostosin glycosyltransferase 2
F2RL1 coagulation factor II (thrombin) receptor-like 1
FAM134B family with sequence similarity 134, member B
FAM13A family with sequence similarity 13, member A
FAP fibroblast activation protein, alpha
FARSB phenylalanyl-tRNA synthetase, beta subunit
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FGF12 fibroblast growth factor 12
FGFRL1 fibroblast growth factor receptor-like 1
FLCN folliculin
FLG filaggrin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLT1 fms-related tyrosine kinase 1
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXF1 forkhead box F1
FOXG1 forkhead box G1
FOXP1 forkhead box P1
FOXP2 forkhead box P2
FOXP3 forkhead box P3
FUK fucokinase
FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAST gastrin
GATA6 GATA binding protein 6
GEMIN4 gem (nuclear organelle) associated protein 4
GIP gastric inhibitory polypeptide
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPHN gephyrin
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GRM5 glutamate receptor, metabotropic 5
GRM8 glutamate receptor, metabotropic 8
GSTK1 glutathione S-transferase kappa 1
GSTT2 glutathione S-transferase theta 2 (gene/pseudogene)
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HDAC8 histone deacetylase 8
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HIRA histone cell cycle regulator
HIVEP2 human immunodeficiency virus type I enhancer binding protein 2
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H')
HRAS Harvey rat sarcoma viral oncogene homolog
HSPA4 heat shock 70kDa protein 4
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
IGF1R insulin-like growth factor 1 receptor
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IL18 interleukin 18
IL18R1 interleukin 18 receptor 1
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL6 interleukin 6
IQSEC2 IQ motif and Sec7 domain 2
IRF5 interferon regulatory factor 5
ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2
JMJD1C jumonji domain containing 1C
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KAT6B K(lysine) acetyltransferase 6B
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1
KIAA0319L KIAA0319-like
KIAA0586 KIAA0586
KIAA2022 KIAA2022
KIF1A kinesin family member 1A
KLHL26 kelch-like family member 26
KLHL7 kelch-like family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT7 keratin 7, type II
LAMA2 laminin, alpha 2
LBR lamin B receptor
LCN1 lipocalin 1
LEP leptin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LONP1 lon peptidase 1, mitochondrial
LRP5 low density lipoprotein receptor-related protein 5
LTBP4 latent transforming growth factor beta binding protein 4
MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast)
MAGEL2 melanoma antigen family L2
MAML3 mastermind-like 3 (Drosophila)
MAP1B microtubule-associated protein 1B
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MCEE methylmalonyl CoA epimerase
MCF2L2 MCF.2 cell line derived transforming sequence-like 2
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEIS2 Meis homeobox 2
MGMT O-6-methylguanine-DNA methyltransferase
MID1 midline 1
MLH1 mutL homolog 1
MLXIPL MLX interacting protein-like
MMP1 matrix metallopeptidase 1
MMP12 matrix metallopeptidase 12
MMP3 matrix metallopeptidase 3
MRPS34 mitochondrial ribosomal protein S34
MSR1 macrophage scavenger receptor 1
MT-ATP6 ATP synthase F0 subunit 6
MUC5B mucin 5B, oligomeric mucus/gel-forming
MYO9A myosin IXA
NALCN sodium leak channel, non selective
NECAP1 NECAP endocytosis associated 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NES nestin
NFE2L2 nuclear factor, erythroid 2-like 2
NGF nerve growth factor (beta polypeptide)
NIPBL Nipped-B homolog (Drosophila)
NONO non-POU domain containing, octamer-binding
NPDC1 neural proliferation, differentiation and control, 1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPNT nephronectin
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR5A2 nuclear receptor subfamily 5, group A, member 2
NRXN1 neurexin 1
NSD2 nuclear receptor binding SET domain protein 2
NT5E 5'-nucleotidase, ecto (CD73)
NTM neurotrimin
NTNG1 netrin G1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUP214 nucleoporin 214kDa
NUP62 nucleoporin 62kDa
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1
OCRL oculocerebrorenal syndrome of Lowe
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
P4HB prolyl 4-hydroxylase, beta polypeptide
PACS1 phosphofurin acidic cluster sorting protein 1
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PARN poly(A)-specific ribonuclease
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative)
PCGF2 polycomb group ring finger 2
PDE4B phosphodiesterase 4B, cAMP-specific
PELI1 pellino E3 ubiquitin protein ligase 1
PERP PERP, TP53 apoptosis effector
PGM3 phosphoglucomutase 3
PHGDH phosphoglycerate dehydrogenase
PHOX2B paired-like homeobox 2b
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
POGZ pogo transposable element with ZNF domain
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PORCN porcupine homolog (Drosophila)
POSTN periostin, osteoblast specific factor
POU5F1 POU class 5 homeobox 1
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PPY pancreatic polypeptide
PRDM16 PR domain containing 16
PRDM6 PR domain containing 6
PRKCSH protein kinase C substrate 80K-H
PSPH phosphoserine phosphatase
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
PYCR1 pyrroline-5-carboxylate reductase 1
RAB5B RAB5B, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RASL12 RAS-like, family 12
RBM43 RNA binding motif protein 43
REM1 RAS (RAD and GEM)-like GTP-binding 1
RERE arginine-glutamic acid dipeptide (RE) repeats
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)
RNF125 ring finger protein 125, E3 ubiquitin protein ligase
RO60 Ro60, Y RNA binding protein
RPL10 ribosomal protein L10
RREB1 ras responsive element binding protein 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTEL1 regulator of telomere elongation helicase 1
S100A8 S100 calcium binding protein A8
SAFB scaffold attachment factor B
SALL1 spalt-like transcription factor 1
SAMD9 sterile alpha motif domain containing 9
SCLY selenocysteine lyase
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCNN1D sodium channel, non voltage gated 1 delta subunit
SDK1 sidekick cell adhesion molecule 1
SEC24C SEC24 family member C
SEC63 SEC63 homolog (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETD5 SET domain containing 5
SFTPA1 surfactant protein A1
SFTPA2 surfactant protein A2
SFTPC surfactant protein C
SH2B1 SH2B adaptor protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHROOM4 shroom family member 4
SKI SKI proto-oncogene
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC22A18 solute carrier family 22, member 18
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLC52A1 solute carrier family 52 (riboflavin transporter), member 1
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SLPI secretory leukocyte peptidase inhibitor
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMG9 SMG9 nonsense mediated mRNA decay factor
SNAP25 synaptosomal-associated protein, 25kDa
SNRK SNF related kinase
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
SON SON DNA binding protein
SOX2 SRY (sex determining region Y)-box 2
SOX5 SRY (sex determining region Y)-box 5
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SSR4 signal sequence receptor, delta
STAC3 SH3 and cysteine rich domain 3
STAG1 stromal antigen 1
STXBP1 syntaxin binding protein 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNJ1 synaptojanin 1
SYT1 synaptotagmin I
SYT2 synaptotagmin II
SZT2 seizure threshold 2 homolog (mouse)
TAC1 tachykinin, precursor 1
TAL1 T-cell acute lymphocytic leukemia 1
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX4 T-box 4
TCF4 transcription factor 4
TECPR2 tectonin beta-propeller repeat containing 2
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFF1 trefoil factor 1
TFF2 trefoil factor 2
TFF3 trefoil factor 3 (intestinal)
TLR4 toll-like receptor 4
TMEM8C transmembrane protein 8C
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TOP2B topoisomerase (DNA) II beta 180kDa
TP53 tumor protein p53
TP63 tumor protein p63
TRAK1 trafficking protein, kinesin binding 1
TRIM21 tripartite motif containing 21
TRIP4 thyroid hormone receptor interactor 4
TRMT10C tRNA methyltransferase 10 homolog C (S. cerevisiae)
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC2 tuberous sclerosis 2
TSPYL1 TSPY-like 1
TWIST1 twist family bHLH transcription factor 1
TWNK twinkle mtDNA helicase
TYMP thymidine phosphorylase
TYMS thymidylate synthetase
UBA5 ubiquitin-like modifier activating enzyme 5
UFD1 ubiquitin recognition factor in ER associated degradation 1
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VEGFA vascular endothelial growth factor A
WASHC5 WASH complex subunit 5
WNK1 WNK lysine deficient protein kinase 1
WWOX WW domain containing oxidoreductase
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ZC3HAV1 zinc finger CCCH-type, antiviral 1
ZNF569 zinc finger protein 569
ZSWIM6 zinc finger, SWIM-type containing 6