Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 158
Gene Symbol: ADSL
ADSL
0.120 GeneticVariation disease BEFREE Mutations in ADSL can result in inborn errors of metabolism characterized by developmental delay and disorder phenotypes, with no effective treatment options. 31516833 2019
Entrez Id: 158
Gene Symbol: ADSL
ADSL
0.120 Biomarker disease BEFREE Most ADSL-deficient children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. 10090474 1999
Entrez Id: 158
Gene Symbol: ADSL
ADSL
0.120 Biomarker disease HPO