Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker MGD Deletions and point mutations in SHANK3 cause Phelan-McDermid Syndrome (PMS), and have also been implicated in autism spectrum disorder (ASD) and intellectual disabilities, leading to the hypothesis that reduced SHANK3 expression impairs basic brain functions that are important for social communication and cognition. 27189882

2017
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker MGD We characterized two lines of mutant mice with Shank3 mutations linked to ASD and schizophrenia. 26687841

2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 Biomarker MGD