Annotation Detail
Information
- Associated Genes
- KMT2A
- Associated Variants
-
KMT2A MUTATION
KMT2A MUTATION - Associated Disease
- Cornelia de Lange syndrome
- Source Database
- DisGeNET
- Description
- Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features.
- Pubmed
- 25574841
- 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
- 5
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs