Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 GeneticVariation BEFREE We found that pathogenic point mutations affecting AP1S2 are associated with dysmorphic features and neurodevelopmental problems, which included highly variable mental retardation (MR), delayed in walking, abnormal speech, hypotonia, abnormal brain, abnormal behavior including aggressive behavior, ASD, self-abusive, and abnormal gait. 30714330

2019
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 GeneticVariation BEFREE AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). 23756445

2014
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 Biomarker BEFREE In total, 60 candidate genes located in this region, including AP1S2, which was recently shown to be involved in mental retardation, were screened for mutations. 17617514

2007
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 GeneticVariation BEFREE Linkage analysis was performed on a four-generation family with nonspecific mental retardation (MRX59). 10398241

1999