Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing. 26029705

2015
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. 25528277

2014
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families. 23173898

2013
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation. 23129639

2012
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 19888295

2010
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. 16460646

2006
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. 11972037

2002