| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. | 25818041 | 2015 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. | 23519317 | 2013 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. | 22462537 | 2013 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | Mutation update on the CHD7 gene involved in CHARGE syndrome. | 22461308 | 2012 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. | 21554267 | 2012 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | Clinical utility gene card for: CHARGE syndrome. | 21407266 | 2011 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. | 21931733 | 2011 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. | 20453063 | 2010 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | Mutations in the CHD7 gene: the experience of a commercial laboratory. | 21158681 | 2010 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. | 19021638 | 2009 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. | 18445044 | 2008 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | BEFREE | The CHARGE syndrome associated with the R2319C mutation in the CHD7 gene comprised: cystic spaces in the colobomatous optic disc and intrapapillary arterio-venous anastomoses. | 18484313 | 2008 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. | 18074359 | 2008 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | CHD7 gene and non-syndromic cleft lip and palate. | 16763960 | 2006 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. | 16400610 | 2006 | |||||
CHARGE Syndrome
|
0.810 | GeneticVariation | UNIPROT | Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. | 15300250 | 2004 | |||||
CHARGE Syndrome
|
0.810 | CausalMutation | CLINVAR | ||||||||
CHARGE Syndrome
|
0.810 | CausalMutation | CLINVAR |