TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		0.010 GeneticVariation disease BEFREE Dopamine/biopterin deficiency is a possible secondary manifestation of CLN2 mutations. 21940688 2012