Annotation Detail
Information
- Associated Genes
- CDAN1
- Associated Variants
-
CDAN1 p.Arg714Trp (p.R714W)
(
ENST00000356231.4 )
CDAN1 p.Arg714Trp (p.R714W) ( ENST00000356231.4 ) - Associated Disease
- Congenital dyserythropoietic anemia, type I
- Source Database
- DisGeNET
- Description
- This function is compromised by two CDAI mutations that impair complex formation with Asf1, providing insight into the molecular basis for CDAI disease.
- Pubmed
- 22407294
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.361628651232482
- Year of publication
- 2012
Drugs