Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
ABCA4 p.Arg1108Cys (p.R1108C)
(
ENST00000370225.4 )
ABCA4 p.Arg1108Cys (p.R1108C) ( ENST00000370225.4 ) - Associated Disease
- cystic fibrosis
- Source Database
- DisGeNET
- Description
- Here, we have examined two disease-causing mutations in the NBD1 region of ABCA4, R1108C, and R1129C, which occur within regions of high similarity with CFTR, another ABC transporter gene, which is associated with cystic fibrosis.
- Pubmed
- 26092729
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.8
- Year of publication
- 2015
Drugs