Annotation Detail
Information
- Associated Genes
- HOXD13
- Associated Variants
-
HOXD13 p.Ser316Tyr (p.S316Y)
(
ENST00000392539.4 )
HOXD13 p.Ser316Cys (p.S316C) ( ENST00000392539.4 )
HOXD13 p.Ile322Leu (p.I322L) ( ENST00000392539.4 )
HOXD13 p.Ile322Val (p.I322V) ( ENST00000392539.4 )
HOXD13 p.Ser316Tyr (p.S316Y) ( ENST00000392539.4 )
HOXD13 p.Ser316Cys (p.S316C) ( ENST00000392539.4 )
HOXD13 p.Ile322Leu (p.I322L) ( ENST00000392539.4 )
HOXD13 p.Ile322Val (p.I322V) ( ENST00000392539.4 ) - Associated Disease
- BRACHYDACTYLY, TYPE E1
- Source Database
- DisGeNET
- Description
- Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
- Pubmed
- 12649808
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2003
Drugs