Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
0.040 GeneticVariation BEFREE It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia vera (JAK2 V617F and other JAK2 mutations), essential thrombocythemia (JAK2V617F and MPL515 mutations), primary myelofibrosis (JAK2 V617F and MPL515 mutations), systemic mastocytosis (KITD816V and other KIT mutations) and stem cell leukaemia/lymphoma (ZNF198-FGFR1 and other FGFR1 fusion genes). 19175693 2009
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
0.040 GeneticVariation BEFREE Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK2 mutation V617F and that 15 CIMF patients without SM did not carry the KIT mutation D816V. 18165278 2008
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
0.040 GeneticVariation BEFREE Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. 15860661 2005
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
0.040 GeneticVariation BEFREE V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). 15920007 2005