Annotation Detail
Information
- Associated Genes
- PPOX
- Associated Variants
-
PPOX p.Leu67Ter (p.L67*)
(
ENST00000352210.9,
ENST00000462866.5,
ENST00000544598.5,
ENST00000367999.9,
ENST00000535223.5 )
PPOX p.Leu67Ter (p.L67*) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 )
PPOX p.Ile12Thr (p.I12T) ( ENST00000367999.9, ENST00000535223.5, ENST00000462866.5, ENST00000544598.5, ENST00000352210.9 )
PPOX p.His20Pro (p.H20P) ( ENST00000352210.9, ENST00000367999.9, ENST00000535223.5, ENST00000462866.5, ENST00000544598.5 )
PPOX p.Arg59Trp (p.R59W) ( ENST00000352210.9, ENST00000535223.5, ENST00000367999.9, ENST00000544598.5, ENST00000462866.5 )
PPOX p.Arg168Cys (p.R168C) ( ENST00000352210.9, ENST00000462866.5, ENST00000544598.5, ENST00000367999.9, ENST00000535223.5 )
PPOX p.Arg168His (p.R168H) ( ENST00000367999.9, ENST00000535223.5, ENST00000462866.5, ENST00000544598.5, ENST00000352210.9 )
PPOX p.Arg168Leu (p.R168L) ( ENST00000367999.9, ENST00000535223.5, ENST00000462866.5, ENST00000544598.5, ENST00000352210.9 )
PPOX p.Gly232Arg (p.G232R) ( ENST00000544598.5, ENST00000462866.5, ENST00000535223.5, ENST00000367999.9, ENST00000352210.9 )
PPOX p.Ile12Thr (p.I12T) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 )
PPOX p.His20Pro (p.H20P) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 )
PPOX p.Arg59Trp (p.R59W) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 )
PPOX p.Arg168Cys (p.R168C) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 )
PPOX p.Arg168His (p.R168H) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 )
PPOX p.Arg168Leu (p.R168L) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 )
PPOX p.Gly232Arg (p.G232R) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 ) - Associated Disease
- variegate porphyria
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.457577708336763
- Year of publication
- NA
Drugs