ASD phenotype
Evidence from:
primary |
all sources
Related entities (23)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| 16p11.2 CNV | biomarker_for | ASD | — | 1 |
| 16p11.2 deletion | risk_factor_for | ASD | — | 1 |
| 16p11.2 deletion | associated_with | ASD | 2e-14 | 1 |
| 16p11.2 duplication | risk_factor_for | ASD | — | 1 |
| 16p11.2 duplication | associated_with | ASD | 2e-05 | 2 |
| 22q11.2 deletion | risk_factor_for | ASD | — | 1 |
| ASD | associated_with | cerebellum | — | 1 |
| ASD | associated_with | CNV | — | 1 |
| ASD | associated_with | SCZ | — | 1 |
| CDH10 | associated_with | ASD | — | 1 |
| CDH9 | associated_with | ASD | — | 1 |
| CNV | associated_with | ASD | — | 2 |
| de novo variant | associated_with | ASD | — | 1 |
| de novo variant | risk_factor_for | ASD | — | 3 |
| FMR1 | risk_factor_for | ASD | — | 1 |
| Foxp1 | associated_with | ASD | — | 1 |
| ID | associated_with | ASD | — | 1 |
| inherited CNVs | associated_with | ASD | — | 1 |
| IQ | associated_with | ASD | — | 1 |
| LGD | risk_factor_for | ASD | — | 1 |
| Myt1l | associated_with | ASD | — | 1 |
| paternal age | risk_factor_for | ASD | — | 1 |
| rare CNV | associated_with | ASD | — | 1 |
Mentioned in (100)
Papers in which this entity is mentioned.
- Mapping the genetic landscape across 14 psychiatric disorders. (2026)
- Cardiovascular and Metabolic Outcomes in Adults with Fetal Alcohol Spectrum Disorders: A Retrospective Cohort Study. (2026)
- Effect of exposure to maternal diabetes during pregnancy on offspring's brain cortical thickness and neurocognitive functioning. (2023)
- Profiles of language and communication abilities in adolescents with fetal alcohol spectrum disorders. (2023)
- Human 3D brain organoids: steering the demolecularization of brain and neurological diseases. (2023)
- Altered dendritic morphology in dorsolateral prefrontal cortex of nonhuman primates prenatally exposed to maternal immune activation. (2023)
- Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses. (2023)
- Genetic Influences on the Developing Young Brain and Risk for Neuropsychiatric Disorders. (2023)
- The Genetic Architecture of Obsessive-Compulsive Disorder: Contribution of Liability to OCD From Alleles Across the Frequency Spectrum. (2022)
- Neurocognitive function and associations with mental health in adults born preterm with very low birthweight or small for gestational age at term. (2022)
- Mapping brain asymmetry in health and disease through the ENIGMA consortium. (2022)
- Virtual Ontogeny of Cortical Growth Preceding Mental Illness. (2022)
- Mapping genomic loci implicates genes and synaptic biology in schizophrenia. (2022)
- Evidence for long-lasting alterations in the fecal microbiota following prenatal alcohol exposure. (2022)
- Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data. (2022)
- FXR1 regulation of parvalbumin interneurons in the prefrontal cortex is critical for schizophrenia-like behaviors. (2021)
- Shared genetic architecture across psychiatric disorders. (2021)
- Prenatal Adversity Alters the Epigenetic Profile of the Prefrontal Cortex: Sexually Dimorphic Effects of Prenatal Alcohol Exposure and Food-Related Stress. (2021)
- Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. (2021)
- Genetic association study of childhood aggression across raters, instruments, and age. (2021)
- Neural correlates of polygenic risk score for autism spectrum disorders in general population. (2020)
- ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries. (2020)
- Relationship of prenatal maternal obesity and diabetes to offspring neurodevelopmental and psychiatric disorders: a narrative review. (2020)
- Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
- "I'm Doing My Part, I Just Need Help From the Community": Intervention Implications of Foster and Adoptive Parents' Experiences Raising Children and Young Adults With FASD. (2019)
- Prenatal Developmental Origins of Future Psychopathology: Mechanisms and Pathways. (2019)
- Sex differences in the genetic architecture of obsessive-compulsive disorder. (2019)
- Prenatal Stress and Maternal Immune Dysregulation in Autism Spectrum Disorders: Potential Points for Intervention. (2019)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
- De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. (2019)
- Polygenic risk for neuropsychiatric disease and vulnerability to abnormal deep grey matter development. (2019)
- Neural cell adhesion molecule Negr1 deficiency in mouse results in structural brain endophenotypes and behavioral deviations related to psychiatric disorders. (2019)
- Identification of common genetic risk variants for autism spectrum disorder. (2019)
- Prenatal Environment That Affects Neuronal Migration. (2019)
- Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue. (2019)
- Hippocampal deficits in neurodevelopmental disorders. (2019)
- Structural brain development: A review of methodological approaches and best practices. (2018)
- Cerebrospinal fluid and the early brain development of autism. (2018)
- Implications of altered maternal cytokine concentrations on infant outcomes in children with prenatal alcohol exposure. (2018)
- DNA methylation as a predictor of fetal alcohol spectrum disorder. (2018)
- Elevated polygenic burden for autism is associated with differential DNA methylation at birth. (2018)
- Altered maternal immune networks are associated with adverse child neurodevelopment: Impact of alcohol consumption during pregnancy. (2018)
- Immune Dysfunction and Autoimmunity as Pathological Mechanisms in Autism Spectrum Disorders. (2018)
- Case-control meta-analysis of blood DNA methylation and autism spectrum disorder. (2018)
- Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014. (2018)
- Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
- Neonatal Cytokine Profiles Associated With Autism Spectrum Disorder. (2017)
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. (2017)
- Machine learning shows association between genetic variability in and cerebral connectivity in preterm infants. (2017)
- Genome-wide association analysis identifies common variants influencing infant brain volumes. (2017)
- Parent-Mediated Intervention Training Delivered Remotely for Children With Autism Spectrum Disorder Living Outside of Urban Areas: Systematic Review. (2017)
- Autism with intellectual disability is associated with increased levels of maternal cytokines and chemokines during gestation. (2017)
- De Novo Coding Variants Are Strongly Associated with Tourette Disorder. (2017)
- Effect of Neuroinflammation on Synaptic Organization and Function in the Developing Brain: Implications for Neurodevelopmental and Neurodegenerative Disorders. (2017)
- Dysregulation of Cortical Neuron DNA Methylation Profile in Autism Spectrum Disorder. (2017)
- Neural correlates of language variability in preschool-aged boys with autism spectrum disorder. (2017)
- Abnormal Eating Behaviors Are Common in Children with Fetal Alcohol Spectrum Disorder. (2016)
- Association between alcohol consumption during pregnancy and risks of congenital heart defects in offspring: meta-analysis of epidemiological observational studies. (2016)
- Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. (2016)
- Presence of an epigenetic signature of prenatal cigarette smoke exposure in childhood. (2016)
- Contribution of Neuroimaging Studies to Understanding Development of Human Cognitive Brain Functions. (2016)
- The PsychENCODE project. (2015)
- Sex differences and stress across the lifespan. (2015)
- Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. (2015)
- The potential of infant fMRI research and the study of early life stress as a promising exemplar. (2015)
- Development of the uncinate fasciculus: Implications for theory and developmental disorders. (2015)
- The autism puzzle: Diffuse but not pervasive neuroanatomical abnormalities in children with ASD. (2015)
- The discovery of integrated gene networks for autism and related disorders. (2015)
- Genetics and genomics of psychiatric disease. (2015)
- Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE): Review of Evidence and Guidelines for Assessment. (2015)
- Prefrontal activation during inhibitory control measured by near-infrared spectroscopy for differentiating between autism spectrum disorders and attention deficit hyperactivity disorder in adults. (2014)
- High resolution magnetic resonance imaging for characterization of the neuroligin-3 knock-in mouse model associated with autism spectrum disorder. (2014)
- The role of BAF (mSWI/SNF) complexes in mammalian neural development. (2014)
- Common DNA methylation alterations in multiple brain regions in autism. (2014)
- A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. (2014)
- Neonatal cytokines and chemokines and risk of Autism Spectrum Disorder: the Early Markers for Autism (EMA) study: a case-control study. (2014)
- Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. (2014)
- Copy number variation: what is it and what has it told us about child psychiatric disorders? (2013)
- Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder. (2013)
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013)
- Gait analysis of teenagers and young adults diagnosed with autism and severe verbal communication disorders. (2013)
- Gene expression in the human brain: the current state of the study of specificity and spatiotemporal dynamics. (2013)
- Aberrant expression of long noncoding RNAs in autistic brain. (2013)
- Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
- Predicting developmental status from 12 to 24 months in infants at risk for Autism Spectrum Disorder: a preliminary report. (2012)
- CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
- Plasma cytokine levels in children with autistic disorder and unrelated siblings. (2012)
- High frequencies of de novo CNVs in bipolar disorder and schizophrenia. (2011)
- Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
- Beyond age and gender: relationships between cortical and subcortical brain volume and cognitive-motor abilities in school-age children. (2011)
- Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes. (2011)
- Basal forebrain involvement in low-functioning autistic children: a voxel-based morphometry study. (2011)
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. (2011)
- Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome. (2011)
- Increased midgestational IFN-γ, IL-4 and IL-5 in women bearing a child with autism: A case-control study. (2011)
- Brain growth across the life span in autism: age-specific changes in anatomical pathology. (2011)
- Novel roles for immune molecules in neural development: implications for neurodevelopmental disorders. (2010)
- Externalizing and internalizing behaviors in ASD. (2010)
- Total brain volume and corpus callosum size in medication-naïve adolescents and young adults with autism spectrum disorder. (2009)
- Cerebellar vermal volumes and behavioral correlates in children with autism spectrum disorder. (2009)
Merged raw entities (4)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| asd | phenotype | 99 | 538 |
| asd risk | phenotype | 1 | 1 |
| idiopathic asd | phenotype | 1 | 1 |
| asd resilience | phenotype | — | — |