Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373458753
rs373458753
ADSL
T 0.810 CausalMutation CLINVAR Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations. 23714113

2013
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs373458753
rs373458753
ADSL
T 0.810 CausalMutation CLINVAR Interestingly, unlike other mutations leading to ADSL deficiency, the R303C mutation has been suggested to more significantly affect the enzyme's ability to catalyze the conversion of succinyladenosine monophosphate than that of SAICAR to their respective products. 22812634

2012
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Interestingly, unlike other mutations leading to ADSL deficiency, the R303C mutation has been suggested to more significantly affect the enzyme's ability to catalyze the conversion of succinyladenosine monophosphate than that of SAICAR to their respective products. 22812634

2012
dbSNP: rs373458753
rs373458753
ADSL
T 0.810 CausalMutation CLINVAR Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. 20127976

2010
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474

2009
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 12833398

2003
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. 12368987

2002
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. 10888601

2000
dbSNP: rs373458753
rs373458753
ADSL
T 0.810 CausalMutation CLINVAR Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. 10958654

2000
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. 10958654

2000
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. 10090474

1999
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. 9545543

1998
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401

1997
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. 1302001

1992
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. 27504266

2016
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: rs119450940
rs119450940
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs119450941
rs119450941
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations. 23714113

2013
dbSNP: rs119450942
rs119450942
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs119450944
rs119450944
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs374259530
rs374259530
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs763542069
rs763542069
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013