Disease Information

Disease Information
Disease Name	Gene Name	Type	UMLS	Association Type	Score	Source
6-pyruvoyl-tetrahydropterin synthase deficiency	PTS	disease	C0878676	Biomarker	0.9	orphanet , disgenet
6-pyruvoyl-tetrahydropterin synthase deficiency	PTS	disease	C0878676	GermlineCausalMutation	0.9	orphanet , disgenet
6-pyruvoyl-tetrahydropterin synthase deficiency	PTS	disease	C0878676	CausalMutation	0.9	orphanet , disgenet
6-pyruvoyl-tetrahydropterin synthase deficiency	PTS	disease	C0878676	GeneticVariation	0.9	orphanet , disgenet
6-pyruvoyl-tetrahydropterin synthase deficiency	GCH1	disease	C0878676	GeneticVariation	0.1	disgenet
6-pyruvoyl-tetrahydropterin synthase deficiency	PRL	disease	C0878676	AlteredExpression	0.01	disgenet
6-pyruvoyl-tetrahydropterin synthase deficiency	PAH	disease	C0878676	AlteredExpression	0.01	disgenet
6-pyruvoyl-tetrahydropterin synthase deficiency	TH	disease	C0878676	AlteredExpression	0.01	disgenet
click here to return to the previous page