Human | BLOC1S3 | 388552 | biogenesis of lysosomal organelles complex-1, subunit 3 | |
Human | HPS4 | 89781 | Hermansky-Pudlak syndrome 4 | |
Human | HPS3 | 84343 | Hermansky-Pudlak syndrome 3 | |
Human | DTNBP1 | 84062 | dystrobrevin binding protein 1 | |
Human | HPS6 | 79803 | Hermansky-Pudlak syndrome 6 | |
Human | P2RY12 | 64805 | purinergic receptor P2Y, G-protein coupled, 12 | |
Human | HPS5 | 11234 | Hermansky-Pudlak syndrome 5 | |
Human | WAS | 7454 | Wiskott-Aldrich syndrome | |
Human | MYH9 | 4627 | myosin, heavy chain 9, non-muscle | Mild-significant bleeding episodes (epistaxis, easy bruisability, postoperative hemorrhage, menorrhagia) Asymptomatic-to-mild bleeding episodes (epistaxis, postoperative hemorrhage) Mild bleeding episodes (epistaxis, GI bleeding, menorrhagia) |
Human | ITGA2B | 3674 | integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) | |
Human | HPS1 | 3257 | Hermansky-Pudlak syndrome 1 | |
Human | GP9 | 2815 | glycoprotein IX (platelet) | |
Human | GP1BB | 2812 | glycoprotein Ib (platelet), beta polypeptide | |
Human | GP1BA | 2811 | glycoprotein Ib (platelet), alpha polypeptide | |
Human | GGCX | 2677 | gamma-glutamyl carboxylase | |
Human | GBA | 2629 | glucosidase, beta, acid | |
Human | GATA1 | 2623 | GATA binding protein 1 (globin transcription factor 1) | |
Human | F5 | 2153 | coagulation factor V (proaccelerin, labile factor) | Bleeding episodes (epistaxis, menorrhagia, ecchymosis) |
Human | ENG | 2022 | endoglin | Definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) Spontaneous, recurrent epistaxis (onset childhood) |
Human | RUNX1 | 861 | runt-related transcription factor 1 | |
Human | ACVRL1 | 94 | activin A receptor type II-like 1 | Definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) Spontaneous, recurrent epistaxis (onset in childhood) |