Annotation Detail
Information
- Associated Genes
- RUNX2
- Associated Variants
-
RUNX2 p.Arg225Gln (p.R225Q)
(
ENST00000371432.7,
ENST00000576263.5,
ENST00000371436.10,
ENST00000359524.7,
ENST00000371438.5,
ENST00000625924.1,
ENST00000647337.2 )
RUNX2 p.Arg225Gln (p.R225Q) ( ENST00000359524.7, ENST00000371432.7, ENST00000371436.10, ENST00000371438.5, ENST00000576263.5, ENST00000625924.1, ENST00000647337.2 ) - Associated Disease
- Central Core Myopathy (disorder)
- Source Database
- DisGeNET
- Description
- On the basis of the structural analysis, this study further demonstrated that the p.R225Q mutation abolished DNA binding by RUNX2 and its results also suggested that other genetic and/or environmental factors could affect the CCD phenotypes.
- Pubmed
- 24634175
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0179151635573
- Year of publication
- 2014
Drugs