Disease: Congenital amegakaryocytic thrombocytopenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1448812001
rs1448812001
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia 		0.700 GeneticVariation UNIPROT The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044 2015
dbSNP: rs1448812001
rs1448812001
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia 		0.700 GeneticVariation UNIPROT MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591 2006