CDAN1, codanin 1, 146059

N. diseases: 77; N. variants: 15
Disease: Congenital dyserythropoietic anemia, type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 Biomarker disease GENOMICS_ENGLAND This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15. 29599085 2018
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease BEFREE This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15. 29599085 2018
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease CLINVAR Clinical and genetic features of congenital dyserythropoietic anemia (CDA). 29901818 2018
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 Biomarker disease BEFREE To analyze the relative frequency of both light microscopic (LM) and electron microscopic (EM) morphological features of erythroblasts in a large group of patients with molecular proven congenital dyserythropoietic anemia type I (CDAI). 28755517 2017
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 Biomarker disease BEFREE Congenital dyserythropoietic anemia type I (CDAI) is a rare autosomal recessive disease characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. 27206021 2017
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. 23605369 2013
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease BEFREE Mutations in Codanin-1 can cause congenital dyserythropoietic anaemia type I (CDAI), characterized by chromatin abnormalities in bone marrow erythroblasts. 22407294 2012
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease CLINVAR Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply. 22407294 2012
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease BEFREE Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts. 21364188 2011
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 AlteredExpression disease BEFREE The mutated gene (CDAN1) encodes a ubiquitously expressed protein of unknown function, codanin-1. 19336738 2009
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease CLINVAR Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene. 18575862 2008
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease CLINVAR Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. 16754775 2006
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease CLINVAR Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. 16141353 2006
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 Biomarker disease BEFREE In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI. 12825070 2003
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 Biomarker disease GENOMICS_ENGLAND Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. 12434312 2002
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease UNIPROT Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. 12434312 2002
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GeneticVariation disease CLINVAR Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. 12434312 2002
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 CausalMutation disease CLINVAR
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 Biomarker disease CTD_human
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		0.780 GermlineCausalMutation disease ORPHANET