Annotation Detail

Information
Associated Genes
PRX
Associated Variants
PRX p.Arg1165Ter (p.R1165*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg291Ter (p.R291*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg291= (p.R291=) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg1165Ter (p.R1165*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg291Ter (p.R291*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg291= (p.R291=) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
Associated Disease
Dejerine-Sottas Disease (disorder)
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.242171534976642
Year of publication
NA
Drugs