Disease: Paroxysmal nocturnal hemoglobinuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.020 GeneticVariation disease BEFREE Our results are more consistent with detection of uniform populations of expanded T cell clones, which presumably acquired HPRT mutations during antigen-driven cell proliferation, and not due to an increased Mf in PNH. 15086421 2004
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.020 GeneticVariation disease BEFREE We next quantitated the frequency of mutations at the hypoxanthine-guanine phosphoribosyl transferase (hprt) gene locus, and found 1 PNH patient with a large increase in hprt mutant frequency (256.7 x 10(-6) vs. 27.8 +/- 19.9 x 10(-6) for normal adults) that was confirmed on 4 independent blood samples. 10389589 1999