Annotation Detail
Information
- Associated Genes
- PPOX
- Associated Variants
-
PPOX p.Arg59Trp (p.R59W)
(
ENST00000352210.9,
ENST00000535223.5,
ENST00000367999.9,
ENST00000544598.5,
ENST00000462866.5 )
PPOX p.Arg59Trp (p.R59W) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 ) - Associated Disease
- Disorders of Porphyrin Metabolism
- Source Database
- DisGeNET
- Description
- Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
- Pubmed
- 15660919
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2005
Drugs