NPM1, nucleophosmin 1, 4869

N. diseases: 283; N. variants: 7
Disease: Pancytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.120 GeneticVariation disease BEFREE We identify NPM1 germline mutations in patients with dyskeratosis congenita presenting with bone marrow failure and demonstrate that they are deficient in small nucleolar RNA binding. 31570891 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.120 GeneticVariation disease BEFREE Important findings in this study that have not been highlighted in detail in previous studies in NPM1-mutated cases include less bleeding manifestations and bone pains, lower frequency of pancytopenia and more preserved magakaryocytes, higher CD123 expression and higher MFI values for CD33. 26669619 2016
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.120 Biomarker disease HPO