Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 GeneticVariation disease BEFREE We established a humanized knock-in mouse model, Myo6-C442Y, to mimic the p.C442Y missense variant identified in human patients with autosomal dominant nonsyndromic hearing loss designated as DFNA22. 31103816 2019
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 Biomarker disease BEFREE The MYO6 gene, if altered, can cause nonsyndromic hearing loss (NSHL) either in an autosomal dominant (AD) (DFNA22) or recessive form. 29607572 2018
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 Biomarker disease CLINGEN A Novel ENU-Induced Mutation in Myo6 Causes Vestibular Dysfunction and Deafness. 27171474 2016
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 Biomarker disease CLINGEN Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics. 25999546 2015
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 Biomarker disease CLINGEN Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family. 25227905 2014
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 GeneticVariation disease BEFREE Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family. 25227905 2014
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 GeneticVariation disease BEFREE Germ-line mutations of the GIPC3 or MYO6 gene cause nonsyndromic hearing loss. 23743496 2013
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 Biomarker disease CLINGEN Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell. 19417007 2009
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 Biomarker disease CLINGEN Seven different unconventional myosin genes are involved in ten different types of syndromic and nonsyndromic hearing loss with different patterns of inheritance: MYO7A in DFNA11/DFNB2/USH1B, MYH9 in DFNA17, MYH14 in DFNA4, MYO6 in DFNA22/DFNB37, MYO3A in DFNB30, MYO1A in DFNA48, and MYO15A in DFNB3. 18348273 2008
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 GeneticVariation disease BEFREE A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 18348273 2008
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 Biomarker disease CLINGEN Myosin VI and VIIa distribution among inner ear epithelia in diverse fishes. 17204383 2007
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 GeneticVariation disease BEFREE MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. 11468689 2001
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
0.360 Biomarker disease CLINGEN MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. 11468689 2001