ADSL, adenylosuccinate lyase, 158

N. diseases: 8; N. variants: 26
Source: CURATED ×
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 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 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 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 Biomarker disease CTD_human Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 12833398 2003
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease UNIPROT Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 12833398 2003
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease UNIPROT Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. 12368987 2002
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 Biomarker disease CTD_human Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. 10958654 2000
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 Biomarker disease CTD_human 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
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease 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
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease UNIPROT Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. 10958654 2000
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease UNIPROT Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. 10090474 1999
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease UNIPROT Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. 9545543 1998
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 Biomarker disease GENOMICS_ENGLAND Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. 9545543 1998
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401 1997
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		0.790 GeneticVariation disease UNIPROT A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. 1302001 1992
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 Biomarker disease CTD_human An Australian patient with autism was found to be heterozygous for two mutations in the gene encoding adenylosuccinate lyase (ASL), resulting in the protein mutations E80D and D87E. 15471876 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4721811
Disease: Adenylosuccinate lyase deficiency type 1
Adenylosuccinate lyase deficiency type 1 		0.300 Biomarker disease CTD_human Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 12833398 2003
CUI: C4721812
Disease: Adenylosuccinate lyase deficiency type 4
Adenylosuccinate lyase deficiency type 4 		0.300 Biomarker disease CTD_human Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 12833398 2003
CUI: C4721813
Disease: Adenylosuccinate lyase deficiency type 3
Adenylosuccinate lyase deficiency type 3 		0.300 Biomarker disease CTD_human Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 12833398 2003
CUI: C4721814
Disease: Adenylosuccinate lyase deficiency type 2
Adenylosuccinate lyase deficiency type 2 		0.300 Biomarker disease CTD_human Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 12833398 2003
CUI: C4721811
Disease: Adenylosuccinate lyase deficiency type 1
Adenylosuccinate lyase deficiency type 1 		0.300 Biomarker disease CTD_human 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
CUI: C4721811
Disease: Adenylosuccinate lyase deficiency type 1
Adenylosuccinate lyase deficiency type 1 		0.300 Biomarker disease CTD_human Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. 10958654 2000
CUI: C4721812
Disease: Adenylosuccinate lyase deficiency type 4
Adenylosuccinate lyase deficiency type 4 		0.300 Biomarker disease CTD_human 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