| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation. | 28965976 | 2018 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. | 25983619 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. | 19921652 | 2009 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. | 17352389 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Differentiating campomelic dysplasia from Cumming syndrome. | 15754354 | 2005 |
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|
A | 0.700 | GeneticVariation | CLINVAR | The phenotype of survivors of campomelic dysplasia. | 12161603 | 2002 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Acampomelic campomelic dysplasia with SOX9 mutation. | 10951468 | 2000 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization. | 9452059 | 1998 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Acampomelic campomelic dysplasia: further radiographic variations. | 9066880 | 1997 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A clinical and genetic study of campomelic dysplasia. | 7666392 | 1995 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 |