Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 Biomarker 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
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 Biomarker CLINGEN Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 26226137

2016
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 Biomarker CLINGEN A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. 23208854

2013
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 Biomarker CLINGEN Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL) in humans (DFNB3) and in the shaker-2 mouse. 19309289

2009
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 Biomarker CLINGEN Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. 15590698

2005
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 Biomarker CLINGEN Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. 15654330

2005
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 Biomarker CLINGEN The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. 10915760

2000
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.480 Biomarker CLINGEN Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. 9603735

1998