ADSL, adenylosuccinate lyase, 158

N. diseases: 84; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease BEFREE Finally, we identified three novel mutations (c.71 C > T, p.P24L; c.1387-1389delGAG, p.E463-; c.134 G > A, p.W45*; NM_000026) in ADSL in the two Chinese families, and confirmed them as the causal variants to the disease-Adenylosuccinate Lyase Deficiency. 28487569 2017
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. 27504266 2016
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease BEFREE In particular, the essential gene encoding the enzyme adenylosuccinate lyase (ADSL) is shown to be Type II, suggesting a loss-of-function therapeutic strategy for the human disorder ADSL deficiency. 27440870 2016
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 Biomarker disease BEFREE Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. 25112391 2015
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Adenylosuccinate lyase deficiency. 25112391 2015
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature. 23504561 2014
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations. 23714113 2013
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. 22180458 2012
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 AlteredExpression disease BEFREE The results also corroborate the hypothesis that the phenotypic severity of ADSL deficiency is mainly determined by structural stability and residual catalytic capacity of the corresponding mutant ADSL protein complexes, as this is prerequisite for the formation and stability of the purinosome and at least partial channeling of succinylaminoimidazolecarboxamide riboside-ADSL enzyme substrates-through the DNPS pathway. 22180458 2012
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease BEFREE Mutation of ADSL's arginine 303 to a cysteine is known to lead to ADSL deficiency. 22812634 2012
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Mutation of ADSL's arginine 303 to a cysteine is known to lead to ADSL deficiency. 22812634 2012
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease UNIPROT Mutation of ADSL's arginine 303 to a cysteine is known to lead to ADSL deficiency. 22812634 2012
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 Biomarker disease BEFREE This substitution lies in the "signature sequence" of ADSL, inactivates the enzyme, and validates AdeI as a cellular model of ADSL deficiency. 20884265 2011
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease CLINVAR In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes. 21210713 2011
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. 20175147 2010
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. 20933180 2010
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease CLINVAR Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. 20127976 2010
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. 20127976 2010
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease CLINVAR Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474 2009
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease UNIPROT Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474 2009
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. 18524658 2008
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GermlineCausalMutation disease ORPHANET Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. 18524658 2008
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. 17188615 2007
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 CausalMutation disease CLINVAR Adenylosuccinate lyase deficiency. 16839792 2006
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease BEFREE A deficiency of adenylosuccinate lyase (ASDL) is characterised by the accumulation of SAICAriboside (SAICAr) and succinyladenosine (S-Ado) in body fluids. 15571235 2004