Manic mood
0.300
Biomarker
phenotype
PSYGENET
The mood-stabilizing drug valproate, but not lithium, rescues the manic -like behaviour of Shank3 transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile.
24153177
2013
Language Delay
0.300
Biomarker
phenotype
CTD_human
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
17173049
2007
Language Development Disorders
0.300
Biomarker
group
CTD_human
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
17173049
2007
Semantic-Pragmatic Disorder
0.300
Biomarker
phenotype
CTD_human
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
17173049
2007
Auditory Processing Disorder, Central
0.300
Biomarker
disease
CTD_human
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
17173049
2007
Language Delay
0.300
Biomarker
phenotype
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
Language Development Disorders
0.300
Biomarker
group
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
Mental Retardation, Psychosocial
0.300
Biomarker
phenotype
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
Child Development Deviations
0.300
Biomarker
disease
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
Child Development Disorders, Specific
0.300
Biomarker
disease
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
Semantic-Pragmatic Disorder
0.300
Biomarker
phenotype
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
Auditory Processing Disorder, Central
0.300
Biomarker
disease
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
Mental deficiency
0.300
Biomarker
disease
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
×
CUI:
C0338831
Disease:
Manic
Manic
0.320
Biomarker
disease
PSYGENET
The mood-stabilizing drug valproate, but not lithium, rescues the manic -like behaviour of Shank3 transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile.
24153177
2013
Developmental Disabilities
0.320
Biomarker
group
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
Profound Mental Retardation
0.320
Biomarker
disease
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
Speech Delay
0.330
Biomarker
disease
CTD_human
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
17173049
2007
Speech Delay
0.330
Biomarker
disease
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
SCHIZOPHRENIA 15
0.400
GeneticVariation
disease
UNIPROT
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
20385823
2010
Autistic Disorder
0.500
Biomarker
disease
CTD_human
Using combined behavioral, electrophysiological, biochemical, imaging, and molecular approaches, we find that Shank3 -deficient mice exhibit autism -like social deficits and repetitive behaviors, as well as the significantly diminished NMDA receptor (NMDAR) synaptic function and synaptic distribution in prefrontal cortex.
26027926
2015
Autistic Disorder
0.500
Biomarker
disease
CTD_human
Identifying autism loci and genes by tracing recent shared ancestry.
18621663
2008
Intellectual Disability
0.500
Biomarker
group
CTD_human
Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech.
16284256
2006
Autism Spectrum Disorders
0.700
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
Autism Spectrum Disorders
0.700
Biomarker
disease
CTD_human
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders .
17173049
2007
Schizophrenia
0.700
Biomarker
disease
CTD_human