| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | UNIPROT | Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. | 27193221 | 2016 |
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|
0.810 | GeneticVariation | UNIPROT | In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son. | 16596676 | 2006 |
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|
0.810 | GeneticVariation | UNIPROT | Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. | 12612583 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. | 27193221 | 2016 |
||||
|
0.800 | GeneticVariation | UNIPROT | Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. | 16596676 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. | 12612583 | 2003 |
||||
|
0.710 | GeneticVariation | UNIPROT | Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. | 27193221 | 2016 |
||||
|
0.710 | GeneticVariation | UNIPROT | We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1. | 16596676 | 2006 |
||||
|
0.710 | GeneticVariation | UNIPROT | Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. | 12612583 | 2003 |