Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755492501
rs755492501
ADSL
0.700 GeneticVariation UNIPROT A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. 1302001

1992
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs202064195
rs202064195
ADSL
0.800 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs28941471
rs28941471
ADSL
0.800 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs374259530
rs374259530
ADSL
0.800 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs763542069
rs763542069
ADSL
0.800 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs777821034
rs777821034
ADSL
0.800 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs143083947
rs143083947
ADSL
0.700 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs1465152683
rs1465152683
ADSL
0.700 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs370851726
rs370851726
ADSL
0.700 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs372895468
rs372895468
ADSL
0.700 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs554254383
rs554254383
ADSL
0.700 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs755492501
rs755492501
ADSL
0.700 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. 20933180

2010
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Adenylosuccinate lyase deficiency. 16839792

2006
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Adenylosuccinate lyase deficiency. 25112391

2015
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature. 23504561

2014
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474

2009
dbSNP: rs202064195
rs202064195
ADSL
0.800 GeneticVariation UNIPROT Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474

2009
dbSNP: rs28941471
rs28941471
ADSL
0.800 GeneticVariation UNIPROT Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474

2009
dbSNP: rs374259530
rs374259530
ADSL
0.800 GeneticVariation UNIPROT Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474

2009
dbSNP: rs763542069
rs763542069
ADSL
0.800 GeneticVariation UNIPROT Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474

2009
dbSNP: rs763542069
rs763542069
ADSL
A 0.800 GeneticVariation CLINVAR Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474

2009
dbSNP: rs777821034
rs777821034
ADSL
0.800 GeneticVariation UNIPROT Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474

2009
dbSNP: rs143083947
rs143083947
ADSL
0.700 GeneticVariation UNIPROT Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474

2009