Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 GeneticVariation disease BEFREE Mutations in Shank proteins are associated with autism, schizophrenia, and Alzheimer's disease. 30058071 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 Biomarker disease BEFREE Interestingly, ProSAP/Shank proteins at glutamatergic synapses have been linked to a variety of Autism Spectrum Disorders (ASDs) including Phelan McDermid Syndrome, and deregulation of ProSAP/Shank has been reported in Alzheimer's disease. 23650259 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 Biomarker disease BEFREE Finally, based on neuropathological findings in animal models and patients, a possible role of SHANK in Alzheimer's disease is discussed. 24124131 2014