PRDM6, PR/SET domain 6, 93166

N. diseases: 48; N. variants: 13
Disease: Classical phenylketonuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.010 AlteredExpression disease BEFREE Data from the phase III PRISM clinical trial program indicate treatment with pegvaliase is associated with sustained reductions in blood phenylalanine levels and sustained improvements in neurological sequelae in patients with phenylketonuria. 30022433 2018