MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Congenital deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.050 GeneticVariation disease BEFREE A girl with profound congenital deafness and balance problems was found at 3.5 years of age to be a carrier of two novel compound heterozygous mutations in MYO7A that were predicted to be disease-causing. 29551606 2018
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.050 Biomarker disease BEFREE Usher syndrome type 1B, which is characterized by congenital deafness and progressive retinal degeneration, is caused by the loss of the function of MYO7A. 24664764 2014
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.050 GeneticVariation disease BEFREE Mutations in MYO7A (myosin VIIa) cause Usher syndrome type 1B, a disorder involving profound congenital deafness and progressive blindness. 21936790 2011
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.050 GeneticVariation disease BEFREE Mutations in Myo7a cause hereditary deafness in mice and humans. 11753415 2002
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.050 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