MYO15A, myosin XVA, 51168

N. diseases: 26; N. variants: 77
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 		0.030 GeneticVariation disease BEFREE We have ascertained seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3 at 17p11.2. 11735029 2001
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.030 Biomarker disease BEFREE Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. 10552926 1999
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.030 GeneticVariation disease BEFREE In recent years, the identification of five different mutated genes in the mouse (Pax3, Mitf; Myo7a, Pou4f3, and Myo15) has led directly to the identification of mutations in families with either congenital sensorineural deafness or progressive sensorineural hearing loss.Each of these cases is reviewed here. 10320095 1999