abnormal platelet volume Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. (Human Phenotype Ontology, HP_0011876)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011876
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Genes

15 genes associated with the abnormal platelet volume 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
ACTN1 actinin, alpha 1
CD36 CD36 molecule (thrombospondin receptor)
FLNA filamin A, alpha
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP9 glycoprotein IX (platelet)
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
LBR lamin B receptor
MYH9 myosin, heavy chain 9, non-muscle
SC5D sterol-C5-desaturase
TTC37 tetratricopeptide repeat domain 37
WAS Wiskott-Aldrich syndrome