| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.060 | GeneticVariation | BEFREE | The E325K mutation causes congenital dyserythropoietic anemia (CDA) type IV, characterized by severe anemia and non-erythroid-related symptoms. | 31818881 | 2020 |
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0.060 | GeneticVariation | BEFREE | Microarray analysis of CDA-erythroid cells and real-time polymerase chain reaction analysis of the KLF1 E325K inducible expression system also revealed altered expression of several KLF1 target genes including erythrocyte membrane protein band 4.1 (EPB41), EPB42, glutathione disulfide reductase (GSR), glucose phosphate isomerase (GPI), and ATPase phospholipid transporting 8A1 (ATP8A1). | 30876823 | 2019 |
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0.060 | GeneticVariation | BEFREE | Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient. | 30872368 | 2019 |
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0.060 | GeneticVariation | BEFREE | Heterozygous missense mutations in KLF1 mostly lead to benign phenotypes, but a heterozygous mutation in a DNA-binding residue (E325K in human) results in severe Congenital Dyserythropoietic Anemia type IV (CDA IV); i.e. an autosomal-dominant disorder characterized by neonatal hemolysis. | 31126231 | 2019 |
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0.060 | GeneticVariation | BEFREE | Type IV congenital dyserythropoietic anemia (CDA) is caused by a monoallelic mutation at the second zinc finger of KLF1 (c.973G>A, p.E325K). | 30876823 | 2019 |
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0.060 | GeneticVariation | BEFREE | The child with unexplained anemia had c.973G>A (p.Glu325Lys), associated with congenital dyserythropoietic anemia. | 29047116 | 2018 |
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0.060 | GeneticVariation | BEFREE | The E325K mutation, within the second zinc finger of the KLF1 gene, has been shown to cause a new form of congenital dyserythropoietic anemia (CDA) now labeled as CDA type IV. | 23522491 | 2013 |