tuberous sclerosis phenotype
Evidence from:
primary |
all sources
Related entities (6)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| autism | associated_with | tuberous sclerosis | — | 1 |
| mTOR | biomarker_for | tuberous sclerosis | — | 1 |
| PTEN | associated_with | tuberous sclerosis | — | 1 |
| tuberous sclerosis | associated_with | autism | — | 1 |
| tuberous sclerosis | associated_with | epilepsy | — | 1 |
| tuberous sclerosis | associated_with | mental retardation | — | 1 |
Mentioned in (14)
Papers in which this entity is mentioned.
- Human 3D brain organoids: steering the demolecularization of brain and neurological diseases. (2023)
- Therapeutic Implications of Germline Testing in Patients With Advanced Cancers. (2021)
- Gestational diabetes induces behavioral and brain gene transcription dysregulation in adult offspring. (2020)
- Cerebrospinal fluid and the early brain development of autism. (2018)
- Elevated polygenic burden for autism is associated with differential DNA methylation at birth. (2018)
- Regulation of mTORC1 by PI3K signaling. (2015)
- Genetics and genomics of psychiatric disease. (2015)
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013)
- Plasma cytokine levels in children with autistic disorder and unrelated siblings. (2012)
- Normal development of brain circuits. (2010)
- The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. (2010)
- A prospective study of fetuses with isolated ventriculomegaly investigated by antenatal sonography and in utero MR imaging. (2010)
- Reduced cortical folding in mental retardation. (2010)
- A comprehensive volumetric analysis of the cerebellum in children and adolescents with autism spectrum disorder. (2009)
Merged raw entities (2)
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 |
|---|---|---|---|
| tuberous sclerosis | phenotype | 11 | 18 |
| tuberous sclerosis complex | phenotype | 4 | 4 |