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: rs780332520
rs780332520
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.700 GeneticVariation CLINVAR Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. 20059486 2010
dbSNP: rs780332520
rs780332520
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.700 GeneticVariation CLINVAR Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. 19280650 2009