Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.070 Biomarker group BEFREE SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age. 30629339 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.070 GeneticVariation group BEFREE SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons. 30911184 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.070 GeneticVariation group BEFREE Genetic association between SHANK2 polymorphisms and susceptibility to autism spectrum disorder. 29934968 2018
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.070 Biomarker group BEFREE SHANK proteins: roles at the synapse and in autism spectrum disorder. 28179641 2017
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.070 GeneticVariation group BEFREE Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. 23468870 2013
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.070 GeneticVariation group BEFREE Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. 21994763 2012
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.070 GeneticVariation group BEFREE Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010