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 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 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 GeneticVariation disease UNIPROT Mutation of ADSL's arginine 303 to a cysteine is known to lead to ADSL deficiency. 22812634 2012
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