rs17292650, MPL

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombocytosis
CUI: C0836924
Disease: Thrombocytosis
0.020 GeneticVariation BEFREE The MPL Baltimore (Lys39Asn) mutation has been reported as a cause of thrombocytosis in 7% of African Americans. 23511495 2013
Thrombocytosis
CUI: C0836924
Disease: Thrombocytosis
0.020 GeneticVariation BEFREE K39N represents an identified functional Mpl polymorphism and is associated with altered protein expression of Mpl and a clinical phenotype of thrombocytosis. 15269348 2004
Congenital amegakaryocytic thrombocytopenia
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
0.010 GeneticVariation BEFREE Here we report unique familial cases of CAMT that presented with a previously unreported <i>MPL</i> mutation: T814C (W272R) in the background of the activating <i>MPL</i> G117T (K39N or Baltimore) mutation. 29296828 2017
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
0.010 GeneticVariation BEFREE We found a single nucleotide substitution (G1238T) that results in a change from lysine to asparagine at amino acid 39 (K39N) in three African-American women referred for an evaluation of an MPD. 15269348 2004