Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		0.480 GeneticVariation disease BEFREE Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss. 26308726 2015
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		0.480 GeneticVariation disease BEFREE Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families. 23865914 2013
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		0.480 Biomarker disease 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 		0.480 GeneticVariation disease BEFREE We estimate the prevalence of homozygous MYO15A mutations in autosomal recessive nonsyndromic deafness in Turkey as 0.062 (95% confidence interval is 0.020-0.105). 20642360 2010
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		0.480 Biomarker disease BEFREE 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 		0.480 Biomarker disease 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 		0.480 GeneticVariation disease BEFREE Recessive mutations of MYO15A are associated with profound, nonsyndromic hearing loss DFNB3 in humans, and deafness and circling behavior in shaker 2 mice. 17546645 2007
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		0.480 Biomarker disease 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 		0.480 Biomarker disease 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 		0.480 Biomarker disease 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 		0.480 Biomarker disease BEFREE We report the construction of a physical map of the region of mouse chromosome 11 that encompasses shaker-2 (sh2), a model for the human nonsyndromic deafness DFNB3. 10049592 1999
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		0.480 Biomarker disease CLINGEN Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. 9603735 1998
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		0.480 GeneticVariation disease BEFREE Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 9603736 1998
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		0.480 CausalMutation disease CLINVAR
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		0.480 GeneticVariation disease CLINVAR
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.440 Biomarker disease CLINGEN Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. 28263850 2017
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.440 Biomarker disease CLINGEN Spatiotemporal changes in the distribution of LHFPL5 in mice cochlear hair bundles during development and in the absence of PCDH15. 29069081 2017
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.440 Biomarker disease CLINGEN The Effect of PCDH15 Gene Variations on the Risk of Noise-induced Hearing Loss in a Chinese Population. 28292353 2017
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.440 Biomarker disease CLINGEN Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.440 Biomarker disease CLINGEN Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss. 26279247 2015
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.440 GeneticVariation disease BEFREE Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss. 26279247 2015
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.440 Biomarker disease CLINGEN Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23. 25930172 2015
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.440 Biomarker disease CLINGEN Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss. 26011067 2015
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.440 Biomarker disease CLINGEN TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells. 25467981 2014
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.440 Biomarker disease CLINGEN Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells. 23467356 2013