Annotation Detail
Information
- Associated Genes
- EPHB2
- Associated Variants
-
EPHB2 MUTATION
EPHB2 MUTATION - Associated Disease
- Kabuki make-up syndrome
- Source Database
- DisGeNET
- Description
- RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
- Pubmed
- 26280580
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs