Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | GeneticVariation | CLINVAR | Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply. | 22407294 | 2012 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene. | 18575862 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. | 12434312 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. | 12434312 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. | 12434312 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. | 12434312 | 2002 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. | 12434312 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. | 12434312 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. | 12434312 | 2002 |
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|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | Clinical and genetic features of congenital dyserythropoietic anemia (CDA). | 29901818 | 2018 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. | 16141353 | 2006 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. | 16754775 | 2006 |
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|
0.700 | GeneticVariation | UNIPROT | Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. | 12434312 | 2002 |
||||
|
0.700 | GeneticVariation | UNIPROT | Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. | 12434312 | 2002 |
||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |