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: 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: rs104894275
rs104894275 		0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-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 18 1994 2017
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: rs1040441824
rs1040441824 		0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1997 1997
dbSNP: rs1040441824
rs1040441824 		0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs1040441824
rs1040441824 		0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1997 1997
dbSNP: rs104894275
rs104894275 		0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-06
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: rs104894275
rs104894275 		0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-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: 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: rs1040441824
rs1040441824 		0.882 0.200 11 112233502 missense variant A/G snv 2.1E-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 0
dbSNP: rs104894280
rs104894280 		0.925 0.120 11 112233205 missense variant G/A snv 4.0E-06 7.0E-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 21 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: rs200712908
rs200712908 		0.925 0.120 11 112233434 missense variant C/T snv 1.2E-04 9.8E-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 14 1994 2013
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: rs104894279
rs104894279 		0.925 0.120 11 112233464 missense variant A/G snv 7.0E-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 12 1994 2001
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: 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: rs104894280
rs104894280 		0.925 0.120 11 112233205 missense variant G/A snv 4.0E-06 7.0E-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: rs200712908
rs200712908 		0.925 0.120 11 112233434 missense variant C/T snv 1.2E-04 9.8E-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: 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: rs104894279
rs104894279 		0.925 0.120 11 112233464 missense variant A/G snv 7.0E-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: rs370340361
rs370340361 		1.000 0.120 11 112230639 missense variant C/T snv 6.8E-05 1.4E-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: rs765406631
rs765406631 		1.000 0.120 11 112233179 missense variant C/T snv 8.0E-06 7.0E-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 2013