Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.120 GeneticVariation BEFREE The analysis of 29 cases with mutations of CHD7, the causative gene for CHARGE syndrome, clarified the relative importance of the cardinal features, including facial nerve palsy and facial asymmetry. 21338411

2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.120 GeneticVariation BEFREE We found that CHARGE individuals with CHD7 mutations more commonly have ocular colobomas, temporal bone anomalies (semicircular canal hypoplasia/dysplasia), and facial nerve paralysis compared with mutation negative individuals. 20186815

2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.120 Biomarker HPO