Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Glu1172Ter (p.E1172*), CFH p.Glu1172Ter (p.E1172*)
(
ENST00000695984.1,
ENST00000695981.1,
ENST00000695974.1,
ENST00000695971.1,
ENST00000695976.1,
ENST00000367429.9,
ENST00000695970.1,
ENST00000696028.1,
ENST00000696027.1,
ENST00000696029.1 )
ENSG00000289697 p.Glu1172Ter (p.E1172*), CFH p.Glu1172Ter (p.E1172*) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 ) - Associated Disease
- hemolytic-uremic syndrome
- Source Database
- DisGeNET
- Description
- Hemolytic uremic syndrome: a factor H mutation (E1172Stop) causes defective complement control at the surface of endothelial cells.
- Pubmed
- 17229916
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0600992385997041
- Year of publication
- 2007
Drugs