NPPA, natriuretic peptide A, 4878

N. diseases: 217; N. variants: 11
Disease: Hereditary persistence of fetal hemoglobin thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271994
Disease: Hereditary persistence of fetal hemoglobin thalassemia
Hereditary persistence of fetal hemoglobin thalassemia 		0.010 GeneticVariation disease BEFREE In addition, loss of CDP binding indicates that this alteration might also contribute to the HPFH phenotype in this particular case, suggesting possible heterogeneity of the mechanisms causing HPFH. 2476717 1989