Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE Deletion of the human SHANK3 gene near the terminus of chromosome 22q is associated with Phelan-McDermid syndrome and autism spectrum disorders. 21048139 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE Of particular recent interest are the synaptic cell adhesion and associated molecules, including neurexin 1, neuroligin 3 and 4, and SHANK3, which implicate glutamatergic synapse abnormalities in ASDs. 19432386 2009
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE These results further support the role of SHANK3 gene disruption in the etiology of ASD. 18615476 2009
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE To further analyse the involvement of SHANK3 in ASD, we screened the International Molecular Genetic Study of Autism Consortium (IMGSAC) multiplex family sample, 330 families, for SNP association and copy number variants (CNVs) in SHANK3. 19384346 2009
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE The unified idea on the molecular pathogenesis of Autism Spectrum Disorder (ASD) is still unknown although mutations in genes encoding neuroligins and SHANK3 have been shown in a small part of the patients. 18957284 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. 18252227 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease CTD_human Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. 18252227 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Contribution of SHANK3 mutations to autism spectrum disorder. 17999366 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease CTD_human Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease HPO