Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Thr956Met (p.T956M), CFH p.Thr956Met (p.T956M)
(
ENST00000696029.1,
ENST00000696027.1,
ENST00000696028.1,
ENST00000695976.1,
ENST00000695970.1,
ENST00000367429.9,
ENST00000695971.1,
ENST00000695974.1,
ENST00000695981.1,
ENST00000695984.1 )
ENSG00000289697 c.3580+10T>C, CFH p.Val1197Ala (p.V1197A) ( ENST00000695981.1, ENST00000695984.1, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000696028.1, ENST00000696029.1, ENST00000696027.1 )
ENSG00000289697 p.Thr956Met (p.T956M), CFH p.Thr956Met (p.T956M) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.3580+10T>C, CFH p.Val1197Ala (p.V1197A) ( 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, atypical, susceptibility to, 1
- Source Database
- DisGeNET
- Description
- Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.
- Pubmed
- 11170895
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- 2001
Drugs