Timothy syndrome phenotype
Evidence from:
primary |
all sources
Related entities (7)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| CACNA1C | risk_factor_for | Timothy syndrome | — | 2 |
| CACNA1C | associated_with | Timothy syndrome | — | 1 |
| Timothy syndrome | associated_with | autism | — | 1 |
| Timothy syndrome | associated_with | autism spectrum disorder | — | 1 |
| Timothy syndrome | associated_with | CACNA1C | — | 1 |
| Timothy syndrome | associated_with | epilepsy | — | 1 |
| Timothy syndrome | associated_with | neurodevelopmental disorder | — | 1 |
Mentioned in (7)
Papers in which this entity is mentioned.
- Human 3D brain organoids: steering the demolecularization of brain and neurological diseases. (2023)
- Alternative splicing: Human disease and quantitative analysis from high-throughput sequencing. (2021)
- Gestational diabetes induces behavioral and brain gene transcription dysregulation in adult offspring. (2020)
- Assembly of functionally integrated human forebrain spheroids. (2017)
- Genetics and genomics of psychiatric disease. (2015)
- CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
- Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. (2009)
Merged raw entities (1)
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 |
|---|---|---|---|
| timothy syndrome | phenotype | 7 | 10 |