MYO15A, myosin XVA, 51168

N. diseases: 26; N. variants: 77
Disease: Deafness, Autosomal Recessive 3 ×
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