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 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
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 Biomarker disease CTD_human
CUI: C0271934
Disease: Congenital dyserythropoietic anemia, type III
Congenital dyserythropoietic anemia, type III 		0.300 Biomarker disease CTD_human
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		0.300 Biomarker disease CTD_human
CUI: C0014800
Disease: Erythroid hyperplasia
Erythroid hyperplasia 		0.100 Biomarker disease HPO
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.100 Biomarker disease HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		0.100 Biomarker phenotype HPO
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		0.100 Biomarker phenotype HPO
CUI: C0221281
Disease: Poikilocytosis
Poikilocytosis 		0.100 Biomarker phenotype HPO
CUI: C1835580
Disease: Mild postnatal growth retardation
Mild postnatal growth retardation 		0.100 Biomarker phenotype HPO
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		0.100 Biomarker phenotype HPO
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement 		0.100 Biomarker phenotype HPO
CUI: C4021725
Disease: Reduced activity of N-acetylglucosaminyltransferase II
Reduced activity of N-acetylglucosaminyltransferase II 		0.100 Biomarker phenotype HPO
CUI: C4025183
Disease: Macrocytic dyserythropoietic anemia
Macrocytic dyserythropoietic anemia 		0.100 Biomarker disease HPO
CUI: C4025624
Disease: Endopolyploidy on chromosome studies of bone marrow
Endopolyploidy on chromosome studies of bone marrow 		0.100 Biomarker phenotype HPO
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE Patients with active CD of the terminal ileum (CD activity index, CDAI, > 150; n = 14), patients with CD in remission (CDAI < 150 n = 10), first-degree relatives of the CD patients (n = 21) and healthy controls (n = 43) were orally intubated with a catheter allowing occlusion and perfusion of a segment of the proximal jejunum. 1426699 1992
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 Biomarker disease BEFREE Neither deficiency of CD44 nor absence of Colton antigens are general features of CDA because erythrocytes from patients with CDA I, CDA II, CDA III, and two other unclassified CDAs had normal expression of CD44 and normal Colton blood group phenotypes. 7507739 1994
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 Biomarker disease BEFREE Three main types of CDA have been distinguished: CDA I and CDA III, whose loci have been already mapped, and CDA II (MIM 224100), the most frequent among CDAs, which is transmitted as an autosomal recessive trait and is known also as "HEMPAS" (hereditary erythroblast multinuclearity with positive acidified serum). 9345103 1997
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.040 Biomarker disease BEFREE Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors. 9255198 1997
CUI: C0002891
Disease: Anemia, Neonatal
Anemia, Neonatal 		0.010 Biomarker disease BEFREE Although rare, congenital dyserythropoietic anemia type I should be considered in the differential diagnosis of neonatal anemia. 9255198 1997
CUI: C0005956
Disease: Bone Marrow Diseases
Bone Marrow Diseases 		0.010 Biomarker group BEFREE Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors. 9255198 1997