Annotation Detail
Information
- Associated Genes
- HJV
- Associated Variants
-
HJV p.Leu79= (p.L79=)
(
ENST00000634927.1,
ENST00000357836.5,
ENST00000497365.5,
ENST00000336751.11,
ENST00000636675.1,
ENST00000475797.1 )
HJV p.Leu79= (p.L79=) ( ENST00000634927.1, ENST00000357836.5, ENST00000497365.5, ENST00000336751.11, ENST00000636675.1, ENST00000475797.1 )
HJV p.Cys80Gly (p.C80G) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000634927.1, ENST00000636675.1 )
HJV p.Cys80Arg (p.C80R) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000634927.1, ENST00000636675.1 ) - Associated Disease
- HEMOCHROMATOSIS, TYPE 2A
- Source Database
- DisGeNET
- Description
- Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.
- Pubmed
- 14982867
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- 2004
Drugs