abnormality of the esophagus Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the esophagus. (Human Phenotype Ontology, HP_0002031)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0002031
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Genes

130 genes associated with the abnormality of the esophagus phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 1.76492
PLCE1 phospholipase C, epsilon 1 1.67403
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide 1.42895
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 1.21598
CHEK2 checkpoint kinase 2 0.948523
RUNX1 runt-related transcription factor 1 0.913185
ACAD10 acyl-CoA dehydrogenase family, member 10 0.853708
HEATR3 HEAT repeat containing 3 0.826407
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 0.812678
PDE4D phosphodiesterase 4D, cAMP-specific 0.766963
BARX1 BARX homeobox 1 0.556064
CRTC1 CREB regulated transcription coactivator 1 0.546998
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 0.524449
XBP1 X-box binding protein 1 0.509047
CHRM2 cholinergic receptor, muscarinic 2 0.492978
ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide 0.472162
ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 0.467275
FCRL6 Fc receptor-like 6 0.465368
PTPDC1 protein tyrosine phosphatase domain containing 1 0.456037
TRAFD1 TRAF-type zinc finger domain containing 1 0.412001
BRAP BRCA1 associated protein 0.411892
CCDC63 coiled-coil domain containing 63 0.411214
PTPN2 protein tyrosine phosphatase, non-receptor type 2 0.407397
SMG6 SMG6 nonsense mediated mRNA decay factor 0.407397
SLC22A17 solute carrier family 22, member 17 0.406405
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 0.396259
KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 0.392421
PES1 pescadillo ribosomal biogenesis factor 1 0.39224
SYK spleen tyrosine kinase 0.391869
NANP N-acetylneuraminic acid phosphatase 0.388689
HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 0.386843
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 0.381442
CSNK1A1 casein kinase 1, alpha 1 0.381141
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 0.37989
HSP90AA6P heat shock protein 90kDa alpha (cytosolic), class A member 6, pseudogene 0.378083
NOC3L nucleolar complex associated 3 homolog (S. cerevisiae) 0.376023
SLC39A6 solute carrier family 39 (zinc transporter), member 6 0.367568
SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 0.361532
OCA2 oculocutaneous albinism II 0.361396
TMC1 transmembrane channel-like 1 0.360942
MTAP methylthioadenosine phosphorylase 0.360061
PEBP4 phosphatidylethanolamine-binding protein 4 0.358454
CDH17 cadherin 17, LI cadherin (liver-intestine) 0.357436
FKBP1A FK506 binding protein 1A, 12kDa 0.356658
MCC mutated in colorectal cancers 0.356476
KANK1 KN motif and ankyrin repeat domains 1 0.355627
CLN3 ceroid-lipofuscinosis, neuronal 3 0.355131
WWOX WW domain containing oxidoreductase 0.354584
SREBF2 sterol regulatory element binding transcription factor 2 0.354501
DGKH diacylglycerol kinase, eta 0.354205
TFDP1 transcription factor Dp-1 0.354022
IKZF3 IKAROS family zinc finger 3 (Aiolos) 0.352838
MUC1 mucin 1, cell surface associated 0.351596
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 0.351596
TSPAN11 tetraspanin 11 0.349505
ZFAND5 zinc finger, AN1-type domain 5 0.34946
CCDC101 coiled-coil domain containing 101 0.349221
TEX41 testis expressed 41 (non-protein coding) 0.348946
FAM167A family with sequence similarity 167, member A 0.348735
ST6GAL2 ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 0.34837
CUBN cubilin (intrinsic factor-cobalamin receptor) 0.347182
IL18R1 interleukin 18 receptor 1 0.346539
JAZF1 JAZF zinc finger 1 0.346446
AMPH amphiphysin 0.346323
TBL2 transducin (beta)-like 2 0.346132
TRPC4 transient receptor potential cation channel, subfamily C, member 4 0.346053
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 0.345223
AGBL4 ATP/GTP binding protein-like 4 0.345066
SHROOM3 shroom family member 3 0.34437
DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila) 0.343128
PTPRM protein tyrosine phosphatase, receptor type, M 0.342918
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 0.342918
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide 0.34196
ATF1 activating transcription factor 1 0.341581
POSTN periostin, osteoblast specific factor 0.34048
USP18 ubiquitin specific peptidase 18 0.340004
DOCK9 dedicator of cytokinesis 9 0.339702
JAZF1-AS1 JAZF1 antisense RNA 1 0.339457
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced 0.338502
AXDND1 axonemal dynein light chain domain containing 1 0.337606
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 0.337228
ATXN2L ataxin 2-like 0.336761
LGR4 leucine-rich repeat containing G protein-coupled receptor 4 0.335467
SPNS1 spinster homolog 1 (Drosophila) 0.335467
LOC646762 uncharacterized LOC646762 0.334489
CADM2 cell adhesion molecule 2 0.334459
ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide 0.334369
THOC5 THO complex 5 0.334309
CLYBL citrate lyase beta like 0.333679
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.333352
IL1RAP interleukin 1 receptor accessory protein 0.33322
SPARCL1 SPARC-like 1 (hevin) 0.332291
BCAT1 branched chain amino-acid transaminase 1, cytosolic 0.332125
ARHGEF10L Rho guanine nucleotide exchange factor (GEF) 10-like 0.329957
HCG18 HLA complex group 18 (non-protein coding) 0.329345
DOCK2 dedicator of cytokinesis 2 0.32887
ABHD6 abhydrolase domain containing 6 0.328739
KIAA0368 KIAA0368 0.328722
GRID1 glutamate receptor, ionotropic, delta 1 0.328434
ERICH5 glutamate-rich 5 0.328434
AGBL1 ATP/GTP binding protein-like 1 0.328434
OSMR oncostatin M receptor 0.327058
DSG1 desmoglein 1 0.326976
SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 0.326976
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 0.326711
BPTF bromodomain PHD finger transcription factor 0.32411
FRMD3 FERM domain containing 3 0.322969
ADH6 alcohol dehydrogenase 6 (class V) 0.320884
CCDC117 coiled-coil domain containing 117 0.320529
ESRRG estrogen-related receptor gamma 0.318182
TSC22D2 TSC22 domain family, member 2 0.317435
BDNF-AS BDNF antisense RNA 0.317369
FADS1 fatty acid desaturase 1 0.316675
PCDH7 protocadherin 7 0.316197
MTMR3 myotubularin related protein 3 0.313575
ERC2 ELKS/RAB6-interacting/CAST family member 2 0.3126
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.3126
ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) 0.311589
MFHAS1 malignant fibrous histiocytoma amplified sequence 1 0.305598
LECT1 leukocyte cell derived chemotaxin 1 0.298282
TMCC1 transmembrane and coiled-coil domain family 1 0.292012
EPHB1 EPH receptor B1 0.285987
OSBPL10 oxysterol binding protein-like 10 0.279743
OTX2-AS1 OTX2 antisense RNA 1 (head to head) 0.275711
DSG3 desmoglein 3 0.274306
CAMTA1 calmodulin binding transcription activator 1 0.269208
ELP2 elongator acetyltransferase complex subunit 2 0.266182
FLJ45872 0.256924
AOX1 aldehyde oxidase 1 0.254732
MIR99AHG mir-99a-let-7c cluster host gene 0.247791