Annotation Detail
Information
- Associated Genes
- FECH
- Associated Variants
-
FECH p.Met273Ile (p.M273I)
(
ENST00000262093.11,
ENST00000382873.8,
ENST00000652755.1 )
FECH p.Met273Ile (p.M273I) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Gly55Cys (p.G55C) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Gly55Ser (p.G55S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Met273Ile (p.M273I) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Met273Ile (p.M273I) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Gly55Cys (p.G55C) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Gly55Ser (p.G55S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 ) - Associated Disease
- erythropoietic protoporphyria
- Source Database
- DisGeNET
- Description
- Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
- Pubmed
- 1755842
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.609405928021807
- Year of publication
- 1991
Drugs