Annotation Detail

Information
Associated Genes
XRCC4
Associated Variants
XRCC4 MUTATION
XRCC4 MUTATION
Associated Disease
Dwarfism
Source Database
DisGeNET
Description
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Pubmed
25728776
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
0.00081432561624091
Drugs