Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
CFH MUTATION
CFH MUTATION
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000630130.2, ENST00000696023.1, ENST00000696029.1, ENST00000695978.1, ENST00000695987.1, ENST00000696027.1, ENST00000695981.1, ENST00000359637.3, ENST00000695984.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695979.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration.
- Pubmed
- 21270465
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2011
Drugs