abnormal platelet function Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any anomaly in the function of thrombocytes. (Human Phenotype Ontology, HP_0011869)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011869
Similar Terms
Downloads & Tools


17 genes associated with the abnormal platelet function 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