Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778514
rs587778514
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.700 CausalMutation CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
dbSNP: rs587778514
rs587778514
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.700 CausalMutation CLINVAR Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 17666371 2007
dbSNP: rs587778514
rs587778514
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.700 CausalMutation CLINVAR MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591 2006
dbSNP: rs587778514
rs587778514
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.700 CausalMutation CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001