rare CNVs variant

Aliases: CNVs, de novo CNVs, rare (<1% in frequency) CNVs, rare but penetrant large CNVs, rare copy number variants, rare copy number variation, rare copy number variations, rare genic CNVs, rare genic copy number variants
External links: ClinVar

Evidence from: primary | all sources

Related entities (26)

Subject	Relation	Object	p-value	Evidence
autism	associated_with	rare CNVs	—	1
Autism Genome Project	associated_with	rare CNVs	—	1
Early age-at-onset	associated_with	rare CNVs	—	1
European ancestry	associated_with	rare CNVs	—	1
rare CNVs	risk_factor_for	attention deficit hyperactivity disorder	—	1
rare CNVs	associated_with	attention deficit hyperactivity disorder	—	1
rare CNVs	risk_factor_for	autism	—	3
rare CNVs	risk_factor_for	autism spectrum disorder	0.012	2
rare CNVs	associated_with	autism spectrum disorder	—	2
rare CNVs	risk_factor_for	bipolar disorder	—	2
rare CNVs	risk_factor_for	early-onset bipolar disorder	—	1
rare CNVs	risk_factor_for	intellectual disability	0.00034	2
rare CNVs	associated_with	International schizophrenia Consortium	—	1
rare CNVs	associated_with	MGS	—	1
rare CNVs	associated_with	neurodevelopment	—	1
rare CNVs	associated_with	neuronal function	—	1
rare CNVs	associated_with	neuropsychiatric disorders	—	1
rare CNVs	risk_factor_for	neuropsychiatric disorders	—	1
rare CNVs	risk_factor_for	obesity	—	1
rare CNVs	risk_factor_for	psychiatric disorders	—	1
rare CNVs	associated_with	psychiatric disorders	—	1
rare CNVs	risk_factor_for	schizophrenia	—	7
rare CNVs	associated_with	schizophrenia	—	1
rare CNVs	risk_factor_for	SCZ	—	1
rare CNVs	associated_with	synaptic activity	—	1
rare variation	interacts_with	rare CNVs	—	1

Mentioned in (18)

Papers in which this entity is mentioned.

Shared genetic architecture across psychiatric disorders. (2021)
Psychiatric Genomics: An Update and an Agenda. (2018)
Genome-wide association analysis identifies common variants influencing infant brain volumes. (2017)
Recent genetic findings in schizophrenia and their therapeutic relevance. (2015)
Evaluating historical candidate genes for schizophrenia. (2015)
Copy number variation: what is it and what has it told us about child psychiatric disorders? (2013)
Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013)
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner. (2012)
CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
Pathway analysis of genomic data: concepts, methods, and prospects for future development. (2012)
Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. (2012)
High frequencies of de novo CNVs in bipolar disorder and schizophrenia. (2011)
Expanding the range of ZNF804A variants conferring risk of psychosis. (2011)
Genetics of psychiatric disorders methods: molecular approaches. (2010)
Statistical analysis strategies for association studies involving rare variants. (2010)
Large copy-number variations are enriched in cases with moderate to extreme obesity. (2010)
Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009)

Merged raw entities (6)

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
rare cnvs	variant	16	27
rare copy number variations	variant	1	1
rare genic cnvs	variant	1	1
rare (<1% in frequency) cnvs	variant	—	—
rare but penetrant large cnvs	variant	—	—
rare genic copy number variants	variant	—	—