impaired platelet aggregation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. (Human Phenotype Ontology, HP_0003540)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003540
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Genes

17 genes associated with the impaired platelet aggregation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
CALR calreticulin
CISD2 CDGSH iron sulfur domain 2
DTNBP1 dystrobrevin binding protein 1
GATA1 GATA binding protein 1 (globin transcription factor 1)
HPS6 Hermansky-Pudlak syndrome 6
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
NBEAL2 neurobeachin-like 2
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PLAU plasminogen activator, urokinase
RUNX1 runt-related transcription factor 1
SH2B3 SH2B adaptor protein 3
THPO thrombopoietin
VWF von Willebrand factor