16p11.2 CNV variant
Evidence from:
primary |
all sources
Related entities (7)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| 16p11.2 CNV | biomarker_for | ASD | — | 1 |
| 16p11.2 CNV | associated_with | autism spectrum disorder | — | 1 |
| 16p11.2 CNV | risk_factor_for | autism spectrum disorders | — | 1 |
| 16p11.2 CNV | risk_factor_for | bipolar disorder | — | 1 |
| 16p11.2 CNV | associated_with | probands | 0.001 | 1 |
| 16p11.2 CNV | associated_with | schizophrenia | — | 1 |
| 16p11.2 CNV | expressed_in | zebrafish | — | 1 |
Mentioned in (7)
Papers in which this entity is mentioned.
- Human 3D brain organoids: steering the demolecularization of brain and neurological diseases. (2023)
- High resolution magnetic resonance imaging for characterization of the neuroligin-3 knock-in mouse model associated with autism spectrum disorder. (2014)
- The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
- CNVs: harbingers of a rare variant revolution in psychiatric genetics. (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)
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. (2011)
Merged raw entities (3)
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 |
|---|---|---|---|
| 16p11.2 cnv | variant | 5 | 7 |
| 16p11.2 | variant | 4 | 10 |
| 16p11.2 copy number variation | variant | 1 | 1 |