PTS, 6-pyruvoyltetrahydropterin synthase, 5805

N. diseases: 89; N. variants: 40
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894276
rs104894276 		0.882 0.120 11 112233178 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 18 1994 2015
dbSNP: rs104894277
rs104894277 		0.925 0.120 11 112230210 missense variant G/A;C snv 1.6E-05; 8.0E-06
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1994 2014
dbSNP: rs104894273
rs104894273 		1.000 0.120 11 112226517 missense variant G/A snv
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 12 1994 2001
dbSNP: rs104894278
rs104894278 		0.925 0.120 11 112228649 missense variant A/G snv 4.0E-06
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 12 1994 2001
dbSNP: rs1317230624
rs1317230624 		1.000 0.120 11 112226521 missense variant G/T snv 1.0E-05
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 12 1994 2001
dbSNP: rs1449216377
rs1449216377 		1.000 0.120 11 112228618 missense variant C/G snv 4.1E-06
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 12 1994 2001
dbSNP: rs1555198458
rs1555198458 		1.000 0.120 11 112233215 missense variant A/G snv
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 12 1994 2001
dbSNP: rs1555198495
rs1555198495 		1.000 0.120 11 112233457 missense variant A/G snv
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 12 1994 2001
dbSNP: rs1230781262
rs1230781262 		1.000 0.120 11 112228591 splice region variant C/G;T snv 2.4E-04
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1997 2017
dbSNP: rs1167104933
rs1167104933 		0.925 0.120 11 112226516 stop gained C/G;T snv
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 1998 2013
dbSNP: rs780332520
rs780332520 		1.000 0.120 11 112233507 frameshift variant A/- delins 1.6E-05
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2009 2010
dbSNP: rs866922524
rs866922524 		1.000 0.120 11 112230681 splice donor variant -/GG delins
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1987 2006
dbSNP: rs104894276
rs104894276 		0.882 0.120 11 112233178 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs104894276
rs104894276 		0.882 0.120 11 112233178 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs104894277
rs104894277 		0.925 0.120 11 112230210 missense variant G/A;C snv 1.6E-05; 8.0E-06
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs1167104933
rs1167104933 		0.925 0.120 11 112226516 stop gained C/G;T snv
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs35082717
rs35082717 		11 112239368 intron variant T/A;G snv
CUI: C2697766
Disease: Interleukin 18 Measurement
Interleukin 18 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs104894278
rs104894278 		0.925 0.120 11 112228649 missense variant A/G snv 4.0E-06
CUI: C4017280
Disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY 		0.700 0
dbSNP: rs1555198165
rs1555198165 		1.000 0.120 11 112229367 non coding transcript exon variant AAAGCACTGATAAAGTTTTTTTTTGTTGTTGTTGTTTTTTTTTTTGAGATGGAGT/- delins
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555198233
rs1555198233 		1.000 0.120 11 112230206 splice acceptor variant A/G snv
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555198263
rs1555198263 		1.000 0.120 11 112230664 frameshift variant TC/- delins
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555198451
rs1555198451 		1.000 0.120 11 112233162 splice acceptor variant G/T snv
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555198462
rs1555198462 		1.000 0.120 11 112233234 splice donor variant G/C snv
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555198483
rs1555198483 		1.000 0.120 11 112233430 splice acceptor variant A/G snv
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555198494
rs1555198494 		1.000 0.120 11 112233452 frameshift variant T/- delins
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0