Annotation Detail
Information
- Associated Genes
- KMT2A
- Associated Variants
-
KMT2A MUTATION
KMT2A MUTATION - Associated Disease
- hypertrichosis
- Source Database
- DisGeNET
- Description
- This patient expands the clinical phenotype associated with mutations in KMT2A to include variable patterns of hypertrichosis and a significantly advanced bone age with premature eruption of the secondary dentition despite her growth retardation.
- Pubmed
- 24818805
- 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