Gene: SHANK2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity. 28326932

2017
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors. 27903723

2016
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness. 27001614

2016
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR Identification and functional characterization of rare SHANK2 variants in schizophrenia. 25560758

2015
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. 25188300

2014
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR The clinical significance of small copy number variants in neurodevelopmental disorders. 25106414

2014
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. 21994763

2012
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. 22699620

2012
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 22346768

2012
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310

2010