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: rs104894273
rs104894273
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894279
rs104894279
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs1167104933
rs1167104933
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs1040441824
rs1040441824
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.700 GeneticVariation UNIPROT
dbSNP: rs1256819927
rs1256819927
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1328320990
rs1328320990
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.700 GeneticVariation UNIPROT
dbSNP: rs1555198165
rs1555198165
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555198233
rs1555198233
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555198263
rs1555198263
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555198451
rs1555198451
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555198462
rs1555198462
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555198483
rs1555198483
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555198494
rs1555198494
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs776543880
rs776543880
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs794726657
rs794726657
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs927103678
rs927103678
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs866922524
rs866922524
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		AGG 0.700 GeneticVariation CLINVAR """Peripheral"" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity." 3297709 1987
dbSNP: rs104894273
rs104894273
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. 8178819 1994
dbSNP: rs104894273
rs104894273
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. 7698774 1994
dbSNP: rs104894275
rs104894275
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. 8178819 1994
dbSNP: rs104894275
rs104894275
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. 7698774 1994
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. 8178819 1994
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. 7698774 1994
dbSNP: rs104894277
rs104894277
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. 8178819 1994
dbSNP: rs104894277
rs104894277
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. 7698774 1994