Human | BLOC1S3 | 388552 | biogenesis of lysosomal organelles complex-1, subunit 3 | |
Human | MCFD2 | 90411 | multiple coagulation factor deficiency 2 | |
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 | HPS5 | 11234 | Hermansky-Pudlak syndrome 5 | |
Human | FCGR2C | 9103 | Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) | |
Human | VWF | 7450 | von Willebrand factor | The P1824H substitution in the A3 domain is associated with very low VWF levels and with a moderate-to-severe bleeding tendency to Von Willebrand's disease Ser968Thr mutation in the A3 domain leads to defective binding to collagen and bleeding tendency |
Human | THBD | 7056 | thrombomodulin | The profibrinolytic effect of plasma TM may contribute to the bleeding tendency observed in some factor XI -deficient patients |
Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | PTPN11 mutations are responsible for Noonan syndrome in a substantial fraction of patients and that relatively infrequent features of Noonan syndrome, such as sensory deafness and bleeding diathesis, can also result from mutations of PTPN11 |
Human | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) | A deficiency in COX1 caued an inherited bleeding disorder |
Human | SERPINF2 | 5345 | serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 | Title:A novel missense mutation in the human plasmin inhibitor (alpha2-antiplasmin) gene associated with a bleeding tendency.|Association:Y|Conclusion:Not Found |
Human | SERPINE1 | 5054 | serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 | Low PAI-1 activity is common in patients with a bleeding diathesis, but it is a risk factor of minor clinical importance and not associated with specific bleeding manifestations |
Human | LMAN1 | 3998 | lectin, mannose-binding, 1 | |
Human | HPS1 | 3257 | Hermansky-Pudlak syndrome 1 | |
Human | GGCX | 2677 | gamma-glutamyl carboxylase | Neonatal bleeding tendency |
Human | F8 | 2157 | coagulation factor VIII, procoagulant component | study reports 4 individuals with the Tyr346-->Cys mutation; mean FVIII:C1 level was 25 IU dL(-1) compared with a mean FVIII:C2 level of 63 IU dL(-1); these individuals presented opportunistically & did not have a clinically significant bleeding disorder |
Human | F5 | 2153 | coagulation factor V (proaccelerin, labile factor) | the severity of the bleeding tendency in patients with FV deficiency is correlated not only with plasma FV activity but also with the amount of FV protein in the platelets |
Human | CPB2 | 1361 | carboxypeptidase B2 (plasma) | Activation of pro-TAFI by plasmin may be a feedback mechanism that counterbalances increased fibrinolysis in patients with bleeding disorders |