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: rs755257605
rs755257605
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia 		C 0.700 GeneticVariation CLINVAR Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. 23625800 2013
dbSNP: rs755257605
rs755257605
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia 		C 0.700 GeneticVariation CLINVAR Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 17666371 2007