Annotation Detail
Information
- Associated Genes
- ZFPM2
- Associated Variants
-
ZFPM2 p.Glu30Gly (p.E30G)
(
ENST00000407775.7,
ENST00000520492.5 )
ZFPM2 p.Ser657Gly (p.S657G) ( ENST00000407775.7, ENST00000517361.1, ENST00000520492.5 )
ZFPM2 p.Glu30Gly (p.E30G) ( ENST00000407775.7, ENST00000520492.5 )
ZFPM2 p.Ser657Gly (p.S657G) ( ENST00000407775.7, ENST00000517361.1, ENST00000520492.5 ) - Associated Disease
- tetralogy of Fallot
- Source Database
- DisGeNET
- Description
- Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
- Pubmed
- 14517948
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.561900093104562
- Year of publication
- 2003
Drugs