Annotation Detail
Information
- Associated Genes
- CDAN1
- Associated Variants
-
CDAN1 p.Arg1042Trp (p.R1042W)
(
ENST00000356231.4 )
CDAN1 p.Arg1042Trp (p.R1042W) ( ENST00000356231.4 ) - Associated Disease
- angioid streaks
- Source Database
- DisGeNET
- Description
- Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).
- Pubmed
- 18081704
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00299579211454747
- Year of publication
- 2008
Drugs