Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Ser1191Leu (p.S1191L), CFH p.Ser1191Leu (p.S1191L)
(
ENST00000696029.1,
ENST00000695976.1,
ENST00000696028.1,
ENST00000696027.1,
ENST00000695984.1,
ENST00000695981.1,
ENST00000695971.1,
ENST00000695974.1,
ENST00000695970.1,
ENST00000367429.9 )
ENSG00000289697 p.Ser1191Leu (p.S1191L), CFH p.Ser1191Leu (p.S1191L) ( 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
- Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.
- Pubmed
- 10577907
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- 1999
Drugs