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
Congenital dyserythropoietic anemia, type I
0.780 CausalMutation disease CLINVAR
Congenital dyserythropoietic anemia, type I
0.780 Biomarker disease GENOMICS_ENGLAND
Congenital dyserythropoietic anemia, type I
0.780 Biomarker disease CTD_human
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
Congenital dyserythropoietic anemia, type III
0.300 Biomarker disease CTD_human
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
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
Endopolyploidy on chromosome studies of bone marrow
0.100 Biomarker phenotype HPO
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: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 AlteredExpression disease BEFREE 193/720 (27%) received anti-tubercular therapy which significantly contributed to diagnostic delay (OR: 2.47; 95% CI: 1.76-3.47, P < 0.001) with 47% showing initial clinical response (Crohn's disease activity index- CDAI decrease >100). 29572889 2018
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 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: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.010 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