CDAN1, codanin 1, 146059

N. diseases: 77; N. variants: 15
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 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 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 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 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 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 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 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 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 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 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: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 GeneticVariation disease BEFREE The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23). 23940284 2013
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 GeneticVariation disease LHGDN CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus. 12434312 2002
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 GeneticVariation disease BEFREE Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H). 24196372 2014
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 GeneticVariation disease BEFREE CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus. 12434312 2002
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene. 18575862 2008
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 GeneticVariation disease LHGDN Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene. 18575862 2008
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease BEFREE SNPs were genotyped (TaqMan) in two cohorts ( n= 90 and n= 444 (ACCENT I)) of active Crohn's disease patients (CDAI 220-450). 12360101 2002
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung. 26183928 2015
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.100 GeneticVariation phenotype GWASCAT Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung. 26183928 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.070 GeneticVariation disease BEFREE <b>Methods:</b> Thirty-one patients with RA (22 women, age 62.4 years, disease duration 13.8 years, prior TCZ duration 35.7 months, 25 intravenous [8 mg/kg/4 weeks] and 6 subcutaneous [162 mg/2 weeks] TCZ treatments, concomitant MTX 8.5 mg/week [35.5%], and prednisolone (PSL) 4.3 mg/day [25.8%]) who showed an inadequate response to TCZ (disease activity score assessing 28 joints with C-reactive protein [DAS28-CRP] 2.9, clinical disease activity index [CDAI] 15.0, 28 secondary inadequate responders) were treated with additional IGU (final dose 41.7 mg/day) and enrolled in this 24-week, multicenter, retrospective study. 29882440 2019
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.040 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. 29599085 2018
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.040 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type I is an inherited autosomal recessive macrocytic anemia associated with ineffective erythropoiesis and the development of secondary hemochromatosis. 19336738 2009
CUI: C0015672
Disease: Fatigue
Fatigue 		0.030 GeneticVariation phenotype BEFREE Moderate/severe toxicities included fatigue (DLT at veliparib 400mg BID), diarrhea, and thrombocytopenia. 26848151 2016