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 |
|
|
|
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 |
|
|
|
Erythroid hyperplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hydrops Fetalis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Splenomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Reticulocytosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Anisocytosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Poikilocytosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Mild postnatal growth retardation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Prolonged neonatal jaundice
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Anisocyte Measurement
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Reduced activity of N-acetylglucosaminyltransferase II
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Macrocytic dyserythropoietic anemia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Endopolyploidy on chromosome studies of bone marrow
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
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 |
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 |
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 |
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 |
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 |
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.
|
18575862 |
2008 |