MVD, mevalonate diphosphate decarboxylase, 4597

N. diseases: 101; N. variants: 11
Disease: Polycythemia Vera ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.020 GeneticVariation disease BEFREE NF1, while not previously associated with PV, is associated with another childhood MPD, juvenile myelomonocytic leukemia (JMML). 18623221 2008
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.020 GeneticVariation disease BEFREE JAK2V617F, a somatic gain-of-function mutation involving the JAK2 tyrosine kinase gene, occurs in nearly all patients with polycythemia vera (PV) but also in a variable proportion of patients with other myeloid disorders; mutational frequency is estimated at approximately 50% in both essential thrombocythemia (ET) and myelofibrosis (MF), up to 20% in certain subcategories of atypical myeloproliferative disorder (atypical MPD), less than 3% in de novo myelodysplastic syndrome (MDS) or acute myeloid leukemia, and 0% in chronic myeloid leukemia (CML). 17124067 2006