Gene: CHD7 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.030 Biomarker disease BEFREE The frequency of CHD7 mutations in this cohort was higher than that of other major CHH-genes and confirms the importance of including CHD7 in the genetic testing of CHH, even in the absence of additional CHARGE features. 30733481 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.030 GeneticVariation disease BEFREE Pathogenic or likely pathogenic CHD7 variants rarely cause isolated CHH. 29144511 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.030 GeneticVariation disease BEFREE We found presumably pathogenic mutations in CHD7 in 24 KS patients but not in CHH patients. 25077900 2014