Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.340 GeneticVariation disease BEFREE Mutations in Shank proteins are associated with autism, schizophrenia, and Alzheimer's disease. 30058071 2018
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.340 GeneticVariation disease BEFREE In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. 25188300 2014
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.340 GeneticVariation disease BEFREE Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. 22346768 2012
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.340 GeneticVariation disease BEFREE A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. 20502490 2010
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.340 Biomarker disease CTD_human Functional impact of global rare copy number variation in autism spectrum disorders. 20531469 2010
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.340 Biomarker disease CTD_human Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010