For example, we identified porphyria as a target disease of GATA1 (odds ratio 170, P = 9.8 × 10-9), while direct mutation of GATA1 (R216W) has been reported in a congenital erythropoietic porphyria patient [50], and the mutant was suggested to cause the disease by regulating UROS, a common causal gene of congenital erythropoietic porphyria. This evidence concerns the gene GATA1 and porphyria.