Glanzmann thrombasthenia |
ITGA2B |
Integrin αIIb |
Binding to fibrinogen or VWF |
75,81 |
ITGB3 |
Integrin β3 |
Bernard-Soulier syndrome |
GP1BA |
Glycoprotein Ibα |
Binding to VWF or thrombin |
82 |
GPIBB |
Glycoprotein Ibβ |
GP9 |
Glycoprotein IX |
Gray platelet syndrome |
NBEAL2 |
Neurobeachin-like protein 2 |
Vesicular trafficking; platelet α granule development |
88-90 |
Familial platelet disorder with a predisposition to AML |
RUNX1 |
Runt-related transcription factor 1 |
Transcription factor involved in megakaryocyte differentiation |
86,87 |
Thrombocytopenia 2 |
ANKRD26 |
Ankyrin repeat domain-containing protein 26 |
Unknown |
91,92 |
Thrombocytopenia-absent radius syndrome |
RBM8A |
RNA-binding protein 8A |
Unknown |
93 |
Wiskott-Aldrich syndrome |
WAS |
Wiskott-Aldrich syndrome protein |
Actin cytoskeleton organization and signaling |
74 |
Chediak-Higashi syndrome |
LYST |
Lysosomal-trafficking regulator |
Lysosomal trafficking |
77 |
MYH9-related disease |
MYH9 |
Myosin heavy chain 9 |
Proplatelet formation |
77,78 |
Hermansky-Pudlak syndrome |
AP3B1 |
AP-3 complex subunit β-1 |
|
79 |
BLOC1S3 |
Biogenesis of lysosomal-related organelles complex |
Formation of lysosomal-related organelles |
BLOC1S6 |
|
|
DTNBP1 |
|
|
HPS1 |
|
|
HPS3 |
|
|
HPS4 |
|
|
HPS5 |
|
|
HPS6 |
|
|
HPS7 |
|
|
HPS8 |
|
|
HPS9 |
|
|