DisGeNET - a database of gene-disease associations

SHANK3, SH3 and multiple ankyrin repeat domains 3, 85358

N. diseases: 169; N. variants: 24

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs9616946

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

29844566

2018

dbSNP:

rs9616915

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0524528
Disease:

Pervasive Development Disorder

0.010

GeneticVariation

BEFREE

A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population.

24398551

2014

dbSNP:

rs9616915

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1510586
Disease:

Autism Spectrum Disorders

0.010

GeneticVariation

BEFREE

Genetic analysis of heterozygous model, dominant model and additive model showed an association of the C allele of the rs9616915 with ASD (e.g., additive model, OR 0.582, 95% CI 0.359-0.942, P = 0.028).

24398551

2014

dbSNP:

rs9616914

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

31374203

2019

dbSNP:

rs9616914

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0036341
Disease:

Schizophrenia

0.700

GeneticVariation

GWASCAT

Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

31374203

2019

dbSNP:

rs9616914

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs767058690

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0036341
Disease:

Schizophrenia

0.010

GeneticVariation

BEFREE

The latter variant was found in one additional SCZ individual and the p.G1011V variant was identified in two additional SCZ individuals from cohort C2.

28371232

2017

dbSNP:

rs767058690

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1510586
Disease:

Autism Spectrum Disorders

0.010

GeneticVariation

BEFREE

The p.G1011V variant was the most interesting variant in our study; together with previous studies this variant has been identified in 4 out of 1,524 SCZ patients and in 4 out of 2,147 individuals with autism spectrum disorder (ASD), but not in 2468 European Sanger-sequenced controls.

28371232

2017

dbSNP:

rs762292772

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1510586
Disease:

Autism Spectrum Disorders

0.700

CausalMutation

CLINVAR

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

25356970

2015

dbSNP:

rs762292772

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1853490
Disease:

22q13.3 Deletion Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs762292772

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1853490
Disease:

22q13.3 Deletion Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs762292772

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1510586
Disease:

Autism Spectrum Disorders

0.700

CausalMutation

CLINVAR

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

30763456

2019

dbSNP:

rs762292772

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0018817
Disease:

Atrial Septal Defects

0.700

CausalMutation

CLINVAR

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

25356970

2015

dbSNP:

rs762292772

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1862389
Disease:

ATRIAL SEPTAL DEFECT 1

0.700

CausalMutation

CLINVAR

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

25356970

2015

dbSNP:

rs76224556

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1510586
Disease:

Autism Spectrum Disorders

0.010

GeneticVariation

BEFREE

While SHANK3 variants are present in any ASD subtype, the SNP rs76224556 appears to be significantly associated with PDD-NOS cases.

22892527

2013

dbSNP:

rs75347843

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0337428
Disease:

Fibrinogen assay

0.700

GeneticVariation

GWASCAT

Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

28107422

2017

dbSNP:

rs75347843

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0337428
Disease:

Fibrinogen assay

0.700

GeneticVariation

GWASCAT

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.

26561523

2016

dbSNP:

rs7286601

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs6010065

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1510586
Disease:

Autism Spectrum Disorders

0.010

GeneticVariation

BEFREE

Genotyping in a clinical cohort within one of these promoters (<i>SHANK3</i> promoter 6) revealed that the SNP rs6010065 was associated with ASD.

29339533

2018

dbSNP:

rs5770820

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

29326435

2019

dbSNP:

rs5770820

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.

29520040

2019

dbSNP:

rs397514705

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1853490
Disease:

22q13.3 Deletion Syndrome

0.800

GeneticVariation

UNIPROT

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.

24132240

2013

dbSNP:

rs397514705

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1853490
Disease:

22q13.3 Deletion Syndrome

0.800

GeneticVariation

UNIPROT

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

22892527

2013

dbSNP:

rs397514705

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1853490
Disease:

22q13.3 Deletion Syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs397514705

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1853490
Disease:

22q13.3 Deletion Syndrome

0.800

GeneticVariation

UNIPROT

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

23758760

2013