PTS, 6-pyruvoyltetrahydropterin synthase, 5805

N. diseases: 89; N. variants: 40
Disease: Hyperphenylalaninemia, Non-Phenylketonuric ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0751436
Disease:
Hyperphenylalaninemia, Non-Phenylketonuric 		0.010 GeneticVariation BEFREE The high incidence of BH4 deficiency in the Taiwanese population may be explained by a founder effect, since all of the patients revealed 6-pyruvoyltetrahydropterin synthase gene mutations, and grouping N52S and P87S mutations together constituted 88.9% of the disease alleles. 11916314 2001