Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the CHD7 gene: the experience of a commercial laboratory. | 21158681 | 2010 |
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0.800 | GeneticVariation | UNIPROT | CHD7 gene and non-syndromic cleft lip and palate. | 16763960 | 2006 |
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0.800 | GeneticVariation | UNIPROT | CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. | 19021638 | 2009 |
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0.800 | GeneticVariation | UNIPROT | Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. | 16400610 | 2006 |
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0.800 | GeneticVariation | UNIPROT | Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. | 25818041 | 2015 |
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0.800 | GeneticVariation | UNIPROT | CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. | 20453063 | 2010 |
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0.800 | GeneticVariation | UNIPROT | Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. | 15300250 | 2004 |
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0.800 | GeneticVariation | UNIPROT | Mutation update on the CHD7 gene involved in CHARGE syndrome. | 22461308 | 2012 |
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0.800 | GeneticVariation | UNIPROT | Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. | 22462537 | 2013 |
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0.800 | GeneticVariation | UNIPROT | CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. | 21931733 | 2011 |
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0.800 | GeneticVariation | UNIPROT | CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. | 21554267 | 2012 |
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0.800 | GeneticVariation | UNIPROT | CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. | 18445044 | 2008 |
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0.800 | GeneticVariation | UNIPROT | Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. | 18074359 | 2008 |