Annotation Detail
Information
- Associated Genes
- KMT2A
- Associated Variants
-
KMT2A MUTATION
KMT2A MUTATION - Associated Disease
- Growth Deficiency and Mental Retardation with Facial Dysmorphism
- Source Database
- DisGeNET
- Description
- Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).
- Pubmed
- 24818805
- 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,CLINVAR,ORPHANET
- DisGENET score for the Gene Disease association
- 0.241085767488321
Drugs