| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. | 9792856 | 1998 |
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G | 0.700 | GeneticVariation | CLINVAR | A Twist in fate: evolutionary comparison of Twist structure and function. | 11992718 | 2002 |
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G | 0.700 | GeneticVariation | CLINVAR | Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. | 19373776 | 2009 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. | 15923834 | 2005 |
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G | 0.700 | GeneticVariation | CLINVAR | Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. | 25271085 | 2015 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. | 9585583 | 1998 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. | 24127277 | 2013 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. | 19483581 | 2009 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. | 16251895 | 2006 |
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G | 0.700 | GeneticVariation | CLINVAR | Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. | 20184424 | 2010 |