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
- Tooth, Supernumerary
- Source Database
- DisGeNET
- Description
- Families whose affected members had several dental alterations such as multiple impacted and supernumerary teeth demonstrated heterozygous missense mutations (R190Q and R225Q) that impair the runt domain of RUNX2.
- Pubmed
- 22023169
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2012
Drugs