GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: Otosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		0.110 Biomarker disease BEFREE The results in our family show that mutations predicting to affect the type II receptor interface can lead to a similar phenotype and that otosclerosis presenting in childhood can be part of the GDF6-related multiple synostoses syndrome. 29130651 2018
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		0.110 Biomarker disease HPO