Annotation Detail
Information
- Associated Genes
- MAP2K1
- Associated Variants
-
MAP2K1 MUTATION
MAP2K1 MUTATION - Associated Disease
- LEOPARD Syndrome
- Source Database
- DisGeNET
- Description
- A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
- Pubmed
- 25423878
- 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,GAD
- DisGENET score for the Gene Disease association
- 0.00290991572276264
Drugs