Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. 22462537

2013
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. 21554267

2012
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. 21931733

2011
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. 20453063

2010
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. 19021638

2009
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 18074359

2008
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. 18445044

2008
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT CHD7 gene and non-syndromic cleft lip and palate. 16763960

2006
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 16400610

2006
dbSNP: rs370271088
rs370271088
CHD7
0.700 GeneticVariation UNIPROT Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004