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: rs1555198165
rs1555198165
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.700 CausalMutation CLINVAR