Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
0.030 Biomarker disease BEFREE Our results revealed that haploinsufficiency of SHANK3 causes a broad spectrum of neurodevelopmental phenotypes with impaired social interaction, repetitive behavior, speech impairment, ID, and regression as the most common observations. 30537371 2018
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
0.030 GeneticVariation disease BEFREE Shank3 mutant mice exhibit autistic-like behaviors, including impaired social interaction and repetitive behaviors. 22749736 2013
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
0.030 GeneticVariation disease BEFREE Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. 17173049 2007