Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.050 GeneticVariation group BEFREE CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with deafness, visual impairment and intellectual disability. 26813943 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.050 GeneticVariation group BEFREE Although we postulated that the non-synonymous SEMA3A variants which we found in CHD7-negative CHARGE patients alone are not sufficient to produce the phenotype, we suggest an important modifier role for SEMA3A in the pathogenesis of this multiple malformation syndrome. 24728844 2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.050 GeneticVariation group BEFREE CHARGE syndrome is an autosomal dominant malformation syndrome associated with mutations in CHD7. 24214489 2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.050 GeneticVariation group BEFREE Mutations in the chromodomain helicase DNA binding protein 7 gene (CHD7) lead to CHARGE syndrome, an autosomal dominant multiple malformation disorder. 23285124 2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.050 GeneticVariation group BEFREE Loss-of-function mutations in CHD7 are known to cause CHARGE syndrome, an autosomal-dominant malformation syndrome in which several organ systems, for example, the central nervous system, eye, ear, nose, and mediastinal organs, are variably involved. 22461308 2012