Annotation Detail
Information
- Associated Genes
- PEX2
- Associated Variants
-
PEX2 p.Trp223Ter (p.W223*)
(
ENST00000357039.9,
ENST00000520103.5,
ENST00000522527.5 )
PEX2 p.Arg119Ter (p.R119*) ( ENST00000522527.5, ENST00000357039.9, ENST00000520103.5 )
PEX2 p.Glu55Lys (p.E55K) ( ENST00000522527.5, ENST00000357039.9, ENST00000520103.5 )
PEX2 p.Trp223Ter (p.W223*) ( ENST00000357039.9, ENST00000520103.5, ENST00000522527.5 )
PEX2 p.Arg119Ter (p.R119*) ( ENST00000357039.9, ENST00000520103.5, ENST00000522527.5 )
PEX2 p.Glu55Lys (p.E55K) ( ENST00000357039.9, ENST00000520103.5, ENST00000522527.5 )
PEX2 p.Ser289ArgfsTer36 (p.S289Rfs*36)
PEX2 p.Ser289ArgfsTer36 (p.S289Rfs*36) - Associated Disease
- Peroxisome biogenesis disorder 5B
- 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