22q11.2 deletion variant
Evidence from:
primary |
all sources
Related entities (3)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| 22q11.2 deletion | risk_factor_for | ASD | — | 1 |
| 22q11.2 deletion | risk_factor_for | schizophrenia | — | 1 |
| 22q11.2 deletion | risk_factor_for | SCZ | — | 1 |
Mentioned in (13)
Papers in which this entity is mentioned.
- Genome-wide association testing beyond SNPs. (2025)
- Polygenic risk scores: from research tools to clinical instruments. (2020)
- ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries. (2020)
- What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics. (2018)
- Social cognition as an RDoC domain. (2016)
- Epidemiology, Etiology, and Treatment of Isolated Cleft Palate. (2016)
- Genetics and genomics of psychiatric disease. (2015)
- CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
- Ethanol-induced face-brain dysmorphology patterns are correlative and exposure-stage dependent. (2012)
- A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. (2010)
- Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009)
- Magnetic resonance microscopy defines ethanol-induced brain abnormalities in prenatal mice: effects of acute insult on gestational day 8. (2009)
- Defects in embryonic neurogenesis and initial synapse formation in the forebrain of the Ts65Dn mouse model of Down syndrome. (2007)
Merged raw entities (7)
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 |
|---|---|---|---|
| 22q11.2 deletion | variant | 8 | 9 |
| 22q11 deletion | variant | 4 | 4 |
| 22q11.2 deletion syndrome | variant | 1 | 1 |
| 22q11-13 deletion | variant | — | — |
| 3mb deletion at chromosome 22q11.21 | variant | — | — |
| chr22q11.21 deletion | variant | — | — |
| digeorge syndrome deletion | variant | — | — |