| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Two new mutations in the HIF2A gene associated with erythrocytosis. | 22367913 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: familial erythrocytosis. | 22274579 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: familial erythrocytosis. | 22274579 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Two new mutations in the HIF2A gene associated with erythrocytosis. | 22367913 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. | 19208626 | 2009 |
||||
|
0.800 | GeneticVariation | UNIPROT | Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. | 19208626 | 2009 |
||||
|
0.800 | GeneticVariation | UNIPROT | A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. | 18184961 | 2008 |
||||
|
0.800 | GeneticVariation | UNIPROT | Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. | 18378852 | 2008 |
||||
|
0.800 | GeneticVariation | UNIPROT | A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. | 18184961 | 2008 |
||||
|
0.800 | GeneticVariation | UNIPROT | Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. | 18378852 | 2008 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR |