Annotation Detail
Information
- Associated Genes
- SETD1A
- Associated Variants
-
SETD1A MUTATION
SETD1A MUTATION - Associated Disease
- Neurodevelopmental Disorders
- Source Database
- DisGeNET
- Description
- We describe four H3K4me methyltransferases (KMT2A, KMT2C, KMT2D, KMT2F), four demethylases (KDM1A, KDM5A, KDM5B, KDM5C), and two reader proteins (PHF21A, PHF8) mutated in neurodevelopmental disorders.
- Pubmed
- 26077434
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs