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
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
T 0.810 CausalMutation CLINVAR Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. 10958654

2000
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: rs119450940
rs119450940
ADSL
C 0.800 CausalMutation CLINVAR

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

2006
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: 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 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: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. 10090474

1999
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 Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. 18524658

2008
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. 22180458

2012
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. 17188615

2007
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Adenylosuccinate lyase deficiency. 25112391

2015
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. 20127976

2010
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. 20175147

2010
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 12833398

2003
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
G 0.800 CausalMutation CLINVAR

dbSNP: rs119450944
rs119450944
ADSL
G 0.800 CausalMutation CLINVAR

dbSNP: rs119450944
rs119450944
ADSL
G 0.800 GeneticVariation CLINVAR

dbSNP: rs202064195
rs202064195
ADSL
T 0.800 GeneticVariation CLINVAR

dbSNP: rs28941471
rs28941471
ADSL
A 0.800 CausalMutation CLINVAR

dbSNP: rs374259530
rs374259530
ADSL
C 0.800 CausalMutation CLINVAR Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. 20127976

2010