Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3840214
Disease: High-functioning autism
High-functioning autism
0.010 GeneticVariation disease BEFREE However, in a patient with high-functioning autism we identified a de novo variant in a canonical splice site of LRP1, a postsynaptic density gene that is a target for fragile X mental retardation protein (FRMP). 31094488 2019