Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation BEFREE These observations suggest that the instability of ASL underlies the severe developmental disorder in the affected children, and that mutations in the ASL gene may result in other cases of mental retardation and autistic features. 1302001

1992
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker HPO