Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
CFH MUTATION
CFH MUTATION - Associated Disease
- Membranoproliferative Glomerulonephritis, Type II
- Source Database
- DisGeNET
- Description
- Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphism potentially protective for age-related macular degeneration and dense deposit disease) causes rearrangements within the module 1 core and increases thermal stability but does not disturb the interface with module 2.
- Pubmed
- 18252712
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.126243163057847
- Year of publication
- 2008
Drugs