Annotation Detail
Information
- Associated Genes
- HJV
- Associated Variants
-
HJV p.Gly320Arg (p.G320R)
(
ENST00000497365.5,
ENST00000357836.5,
ENST00000475797.1,
ENST00000336751.11,
ENST00000636675.1 )
HJV p.Gly320Val (p.G320V) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 ) - Associated Disease
- Hereditary hemochromatosis
- Source Database
- DisGeNET
- Description
- We evaluated the frequency of the most common mutation (G320V) of the HJV gene in the Greek population, since 50% of cases of hereditary hemochromatosis in Greece carry mutations of the HJV gene.
- Pubmed
- 15194541
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121357209360402
- Year of publication
- 2004
Drugs