ADSL, adenylosuccinate lyase, 158

N. diseases: 8; N. variants: 26
Disease: Adenylosuccinate lyase deficiency (disorder) ×
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