Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 158
Gene Symbol: ADSL
ADSL
0.020 GeneticVariation group BEFREE In humans, mutations in ADSL lead to an inborn error of metabolism originally characterized by developmental delay, often with autistic features. 20884265 2011
Entrez Id: 158
Gene Symbol: ADSL
ADSL
0.020 Biomarker group BEFREE Adenylosuccinate lyase (ADSL) deficiency is a rare inborn error of metabolism resulting in accumulation of metabolites including succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in the brain and other tissues. 23055421 2013