Annotation Detail
Information
- Associated Genes
- PEX2
- Associated Variants
-
PEX2 p.Arg94SerfsTer5 (p.R94Sfs*5)
(
ENST00000357039.9,
ENST00000520103.5,
ENST00000522527.5 )
PEX2 p.Arg94SerfsTer5 (p.R94Sfs*5) ( ENST00000357039.9, ENST00000520103.5, ENST00000522527.5 )
PEX2 p.Cys247Arg (p.C247R) ( ENST00000357039.9, ENST00000520103.5, ENST00000522527.5 )
PEX2 p.Arg119Ter (p.R119*) ( ENST00000522527.5, ENST00000357039.9, ENST00000520103.5 )
PEX2 p.Cys247Arg (p.C247R) ( ENST00000357039.9, ENST00000520103.5, ENST00000522527.5 )
PEX2 p.Arg119Ter (p.R119*) ( ENST00000357039.9, ENST00000520103.5, ENST00000522527.5 ) - Associated Disease
- Peroxisome biogenesis disorder 5A (Zellweger)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.2
- Year of publication
- NA
Drugs