abnormality of von willebrand factor Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. (Human Phenotype Ontology, HP_0012146)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0012146
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Genes

13 genes associated with the abnormality of von willebrand factor phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 2.92073
SURF4 surfeit 4 2.80546
VWF von Willebrand factor 1.96414
SURF2 surfeit 2 1.4742
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 1.04365
ASIC2 acid sensing (proton gated) ion channel 2 1.00059
STAB2 stabilin 2 0.969142
ANKRD6 ankyrin repeat domain 6 0.919744
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 0.899912
VAV2 vav 2 guanine nucleotide exchange factor 0.868241
ESR1 estrogen receptor 1 0.762459
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 0.730213
NRG1 neuregulin 1 0.685732
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