ADSL, adenylosuccinate lyase, 158

N. diseases: 8; N. variants: 26
Disease: Adenylosuccinate lyase deficiency (disorder) ×
Source: CURATED ×
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: rs373458753
rs373458753 		1.000 0.120 22 40361532 missense variant C/T snv 2.4E-05 5.6E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.810 1.000 13 1992 2013
dbSNP: rs119450941
rs119450941 		1.000 0.120 22 40364965 missense variant G/A snv 2.0E-04 2.3E-04
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 15 1999 2016
dbSNP: rs374259530
rs374259530 		0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 14 1992 2013
dbSNP: rs763542069
rs763542069 		1.000 0.120 22 40364361 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 13 1992 2013
dbSNP: rs777821034
rs777821034 		1.000 0.120 22 40365027 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 11 1992 2013
dbSNP: rs202064195
rs202064195 		1.000 0.120 22 40361578 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 10 1992 2012
dbSNP: rs28941471
rs28941471 		1.000 0.120 22 40358950 missense variant G/A snv 3.2E-05 2.8E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 10 1992 2012
dbSNP: rs119450940
rs119450940 		1.000 0.120 22 40365000 missense variant T/C snv
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs119450942
rs119450942 		1.000 0.120 22 40349976 missense variant C/G snv 4.0E-06
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs119450944
rs119450944 		1.000 0.120 22 40360436 missense variant A/G snv 2.0E-05 2.8E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs143083947
rs143083947 		1.000 0.120 22 40346563 missense variant C/A;G;T snv 1.7E-05; 4.4E-06; 1.2E-04
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 10 1992 2012
dbSNP: rs1465152683
rs1465152683 		1.000 0.120 22 40358961 missense variant C/T snv 7.0E-06
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 10 1992 2012
dbSNP: rs370851726
rs370851726 		1.000 0.120 22 40363060 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 10 1992 2012
dbSNP: rs372895468
rs372895468 		1.000 0.120 22 40365037 missense variant C/G;T snv 2.8E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 10 1992 2012
dbSNP: rs554254383
rs554254383 		1.000 0.120 22 40364976 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 10 1992 2012
dbSNP: rs755492501
rs755492501 		1.000 0.120 22 40364360 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 10 1992 2012
dbSNP: rs119450943
rs119450943 		1.000 0.120 22 40364952 missense variant G/T snv 2.0E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs376533026
rs376533026 		1.000 0.120 22 40364294 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs1036185928
rs1036185928 		1.000 0.120 22 40349931 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs119450945
rs119450945 		1.000 0.120 22 40359279 missense variant T/C snv
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1311171245
rs1311171245 		1.000 0.120 22 40346634 missense variant A/T snv
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1569096551
rs1569096551 		1.000 0.120 22 40358931 stop gained C/T snv
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs746501563
rs746501563 		1.000 0.120 22 40361282 missense variant G/A;C snv 2.0E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs750614500
rs750614500 		1.000 0.120 22 40358949 stop gained C/T snv 1.2E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs756210458
rs756210458 		0.925 0.200 22 40354266 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0