ADSL, adenylosuccinate lyase, 158

N. diseases: 8; N. variants: 26
Disease: Adenylosuccinate lyase deficiency (disorder) ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119450941
rs119450941
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		A 0.800 CausalMutation CLINVAR Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. 27504266 2016
dbSNP: rs119450941
rs119450941
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		A 0.800 CausalMutation CLINVAR Adenylosuccinate lyase deficiency. 25112391 2015
dbSNP: rs119450941
rs119450941
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		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
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs119450941
rs119450941
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		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: rs119450941
rs119450941
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		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
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		A 0.800 CausalMutation CLINVAR Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. 20933180 2010
dbSNP: rs119450941
rs119450941
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		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
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		A 0.800 CausalMutation CLINVAR In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. 20175147 2010
dbSNP: rs119450941
rs119450941
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		A 0.800 CausalMutation CLINVAR Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. 18524658 2008
dbSNP: rs119450941
rs119450941
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		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
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		A 0.800 CausalMutation CLINVAR Adenylosuccinate lyase deficiency. 16839792 2006
dbSNP: rs119450941
rs119450941
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		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
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		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
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		A 0.800 CausalMutation CLINVAR Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. 10090474 1999