MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Congenital sensorineural hearing loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.010 GeneticVariation disease BEFREE The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. 8622919 1996