| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. | 21045959 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. | 19036739 | 2009 |
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|
T | 0.800 | CausalMutation | CLINVAR | Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. | 19036739 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. | 18478600 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis. | 17122170 | 2006 |
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|
T | 0.800 | CausalMutation | CLINVAR | Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. | 16160700 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Gene symbol: IRF6. Disease: Van der Woude syndrome. | 15300989 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. | 14618417 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium. | 14640121 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Novel mutations in the IRF6 gene for Van der Woude syndrome. | 12920575 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. | 12219090 | 2002 |
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|
T | 0.800 | CausalMutation | CLINVAR | Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. | 12219090 | 2002 |