Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paroxysmal nocturnal hemoglobinuria
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
0.010 GeneticVariation BEFREE Analysis of the X-linked gene PIG-A from haemopoietic cells of a female PNH patient showed a homozygous C-55-T substitution that caused replacement of arginine with tryptophan at codon 19. 8652378 1996