Annotation Detail
Information
- Associated Genes
- SLC40A1
- Associated Variants
-
SLC40A1 p.Asn144His (p.N144H)
(
ENST00000261024.7 )
SLC40A1 p.Asn144His (p.N144H) ( ENST00000261024.7 ) - Associated Disease
- Iron Overload
- Source Database
- DisGeNET
- Description
- We describe here the clinical and biological characteristics of autosomal dominant form of iron overload due to the N144H mutation of the SLC11A3 gene.
- Pubmed
- 12547233
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.141421501807606
- Year of publication
- 2002
Drugs