rs750046020, MPL

N. diseases: 6
Disease: Congenital amegakaryocytic thrombocytopenia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital amegakaryocytic thrombocytopenia
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
0.700 CausalMutation CLINVAR Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. 19036112 2009
Congenital amegakaryocytic thrombocytopenia
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
0.700 CausalMutation CLINVAR The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044 2015