abnormality of the pharynx Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. (Human Phenotype Ontology, HP_0000600)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000600
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Genes

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

Symbol Name Standardized Value
FGFR2 fibroblast growth factor receptor 2 2.85257
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) 2.57347
KITLG KIT ligand 2.24728
MSMB microseminoprotein, beta- 2.20103
SMAD7 SMAD family member 7 2.16902
CDK10 cyclin-dependent kinase 10 2.14826
HYKK hydroxylysine kinase 2.12703
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 2.08835
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide 2.0775
ITGA6 integrin, alpha 6 2.05803
IRF4 interferon regulatory factor 4 1.97023
IKZF1 IKAROS family zinc finger 1 (Ikaros) 1.93708
ARID5B AT rich interactive domain 5B (MRF1-like) 1.90427
HNF1B HNF1 homeobox B 1.87544
BARD1 BRCA1 associated RING domain 1 1.85941
TERT telomerase reverse transcriptase 1.84688
PIGU phosphatidylinositol glycan anchor biosynthesis, class U 1.75033
PDLIM5 PDZ and LIM domain 5 1.72215
CDKN2B-AS1 CDKN2B antisense RNA 1 1.69824
CASC15 cancer susceptibility candidate 15 (non-protein coding) 1.68928
TYR tyrosinase 1.67051
BAK1 BCL2-antagonist/killer 1 1.63258
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 1.55984
RTEL1 regulator of telomere elongation helicase 1 1.53903
PADI6 peptidyl arginine deiminase, type VI 1.53327
APOM apolipoprotein M 1.52822
ZNRD1-AS1 ZNRD1 antisense RNA 1 1.46143
CLPTM1L CLPTM1-like 1.41863
ACOXL acyl-CoA oxidase-like 1.41863
PSCA prostate stem cell antigen 1.41863
NR5A2 nuclear receptor subfamily 5, group A, member 2 1.41863
EEFSEC eukaryotic elongation factor, selenocysteine-tRNA-specific 1.40061
SLC22A3 solute carrier family 22 (organic cation transporter), member 3 1.37339
SP140 SP140 nuclear body protein 1.37339
COLCA2 colorectal cancer associated 2 1.37339
EMBP1 embigin pseudogene 1 1.36794
LMTK2 lemur tyrosine kinase 2 1.35521
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 1.32793
FARP2 FERM, RhoGEF and pleckstrin domain protein 2 1.32793
TNFRSF19 tumor necrosis factor receptor superfamily, member 19 1.32793
LSP1 lymphocyte-specific protein 1 1.30781
PRKD2 protein kinase D2 1.29386
RHPN2 rhophilin, Rho GTPase binding protein 2 1.28282
EHBP1 EH domain binding protein 1 1.25845
PHLDB1 pleckstrin homology-like domain, family B, member 1 1.24751
MECOM MDS1 and EVI1 complex locus 1.24751
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 1.24751
THADA thyroid adenoma associated 1.21853
RNF146 ring finger protein 146 1.19958
ITGA9 integrin, alpha 9 1.16661
MAP1LC3B2 microtubule-associated protein 1 light chain 3 beta 2 1.16177
COL1A1 collagen, type I, alpha 1 1.16177
CTBP2 C-terminal binding protein 2 1.12851
RAD51B RAD51 paralog B 1.12851
MT1A metallothionein 1A 1.12696
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon 1.11203
ZNF230 zinc finger protein 230 1.09906
MTAP methylthioadenosine phosphorylase 1.09906
TNRC6B trinucleotide repeat containing 6B 1.08774
TGM5 transglutaminase 5 1.04365
ACTA2 actin, alpha 2, smooth muscle, aorta 1.04365
LINC00299 long intergenic non-protein coding RNA 299 1.02164
TSSC1 tumor suppressing subtransferable candidate 1 1.00733
JAZF1 JAZF zinc finger 1 1.00059
CTDSPL CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like 1.00059
UCK2 uridine-cytidine kinase 2 1.00059
RYR2 ryanodine receptor 2 (cardiac) 1.00059
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1.00059
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 0.969142
RBMS3 RNA binding motif, single stranded interacting protein 3 0.969142
KCNE4 potassium channel, voltage gated subfamily E regulatory beta subunit 4 0.969142
HAPLN1 hyaluronan and proteoglycan link protein 1 0.969142
CPEB1 cytoplasmic polyadenylation element binding protein 1 0.942765
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.942765
SDCCAG8 serologically defined colon cancer antigen 8 0.921387
KCNMB2 potassium channel subfamily M regulatory beta subunit 2 0.899912
FBN1 fibrillin 1 0.899912
GRIK1 glutamate receptor, ionotropic, kainate 1 0.899912
SPATA22 spermatogenesis associated 22 0.870439
IL1RAP interleukin 1 receptor accessory protein 0.868241
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.855449
PARD3 par-3 family cell polarity regulator 0.855449
CEMIP cell migration inducing protein, hyaluronan binding 0.700393
HLA-F major histocompatibility complex, class I, F 0.690584