OTOGL, otogelin like, 283310

N. diseases: 9; N. variants: 8
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family. 28426234 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population. 25719458 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss. 25829320 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg925) in the otogelin-like gene (OTOGL), in a child affected by mild to moderate isolated deafness. 23850727 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 GeneticVariation disease BEFREE We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg925) in the otogelin-like gene (OTOGL), in a child affected by mild to moderate isolated deafness. 23850727 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. 23122586 2012