Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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