Annotation Detail
Information
- Associated Genes
- XRCC4
- Associated Variants
-
XRCC4 MUTATION
XRCC4 MUTATION - Associated Disease
- Metabolic syndrome X
- Source Database
- DisGeNET
- Description
- An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
- Pubmed
- 25742519
- 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