Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.010 GeneticVariation disease BEFREE For this, CYP2C9*2, *3; CYP2C19*2; CYP2D6*4, *5; CYP3A4*1B and CYP3A5*3 defective alleles were genotyped in fifty AIP carriers from the Region of Murcia, a Spanish population with a high frequency of the HMBS founder mutation c.669_698del30. 30808393 2019