Condition: Congenital dyserythropoietic anemia, type I
rs120074166 in
CDAN1 gene and
Congenital dyserythropoietic anemia, type I
PMID 12434312 2002 Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
PMID 16141353 2006 Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.
PMID 16754775 2006 Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I.
PMID 29901818 2018 Clinical and genetic features of congenital dyserythropoietic anemia (CDA).
PMID 18575862 2008 Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.
PMID 22407294 2012 Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.