Annotation Detail

Information
Associated Genes
ZFPM2
Associated Variants
ZFPM2 p.Glu30Gly (p.E30G) ( ENST00000407775.7, ENST00000520492.5 )
ZFPM2 p.Arg112Ter (p.R112*) ( ENST00000407775.7, ENST00000517361.1, ENST00000520492.5 )
ZFPM2 p.Glu30Gly (p.E30G) ( ENST00000407775.7, ENST00000520492.5 )
ZFPM2 p.Arg112Ter (p.R112*) ( ENST00000407775.7, ENST00000517361.1, ENST00000520492.5 )
Associated Disease
Diaphragmatic hernia 3
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.24
Year of publication
NA
Drugs