Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.310 GeneticVariation disease BEFREE Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. 25188300 2014
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.310 Biomarker disease CTD_human Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010