MYO15A, myosin XVA, 51168

N. diseases: 26; N. variants: 77
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease CLINVAR Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 30828794 2019
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease BEFREE MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). 30953472 2019
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 CausalMutation disease CLINVAR A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman. 27734841 2017
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 CausalMutation disease CLINVAR Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil. 27870113 2016
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease BEFREE Mutations in exon 2 of MYO15A may cause a less severe phenotype, facilitating the rapid identification of mutations in exon 2 among the 66 exons when linkage of less severe hearing loss to Deafness, Autosomal Recessive 3 (DFNB3) is detected. 26810297 2016
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease CLINVAR Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis. 25792667 2015
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 Biomarker disease MGD The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing. 26302205 2015
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease CLINVAR Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. 24875298 2014
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease UNIPROT Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. 24926664 2014
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease CLINVAR A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. 23208854 2013
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease CLINVAR A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. 24123792 2013
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 CausalMutation disease CLINVAR Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. 23767834 2013
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease CLINVAR Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. 23767834 2013
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease CLINVAR Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. 23967202 2013
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 CausalMutation disease CLINVAR Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. 22736430 2012
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease CLINVAR Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. 21917145 2011
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 CausalMutation disease CLINVAR Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. 20642360 2010
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 CausalMutation disease CLINVAR Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. 17546645 2007
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease UNIPROT Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. 11735029 2001
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 GeneticVariation disease UNIPROT Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 9603736 1998
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 Biomarker disease GENOMICS_ENGLAND Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 9603736 1998
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 3 		0.920 Biomarker disease CTD_human
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 Biomarker disease CLINGEN Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the third or fourth most common cause of autosomal-recessive, nonsyndromic deafness. 27375115 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 Biomarker disease CLINGEN Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 26226137 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 GeneticVariation disease BEFREE Mutations in the MYO15A gene are a notable cause of nonsyndromic hearing loss. 25792667 2015