PTS, 6-pyruvoyltetrahydropterin synthase, 5805

N. diseases: 89; N. variants: 40
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747260038
rs747260038
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		C 0.700 CausalMutation CLINVAR Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. 23138986 2013
dbSNP: rs747260038
rs747260038
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		C 0.700 CausalMutation CLINVAR Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. 22237589 2012
dbSNP: rs747260038
rs747260038
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		C 0.700 CausalMutation CLINVAR Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 16917893 2006
dbSNP: rs747260038
rs747260038
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		C 0.700 CausalMutation CLINVAR Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. 11694255 2001