bicuspid aortic valve Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description The presence of an aortic valve with two instead of the normal three cusps (flaps). (Human Phenotype Ontology, HP_0001647)
External Link
Similar Terms
Downloads & Tools


14 genes associated with the bicuspid aortic valve phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
MAML3 mastermind-like 3 (Drosophila) 1.52822
SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 1.17498
HLA-B major histocompatibility complex, class I, B 1.0118
PIEZO1 piezo-type mechanosensitive ion channel component 1 0.961856
SLC17A3 solute carrier family 17 (organic anion transporter), member 3 0.942303
ZNF385D zinc finger protein 385D 0.918532
REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae) 0.7965
MYLK myosin light chain kinase 0.526585
ZBTB16 zinc finger and BTB domain containing 16 0.510564
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 0.489341
AXIN1 axin 1 0.484604
PDIA2 protein disulfide isomerase family A, member 2 0.471696
CD44 CD44 molecule (Indian blood group) 0.425194
CSF1R colony stimulating factor 1 receptor 0.424501