OTOGL, otogelin like, 283310

N. diseases: 9; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. 23122586 2012
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.600 Biomarker disease CTD_human
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.600 CausalMutation disease CLINVAR
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.600 GeneticVariation disease CLINVAR
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
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 GeneticVariation phenotype BEFREE Defects in either cause the DFNB18B and DFNB84B genetic forms of deafness, respectively, both characterized by congenital mild-to-moderate hearing impairment. 31776257 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 GeneticVariation phenotype BEFREE Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment. 23850727 2013
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 GeneticVariation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 Biomarker phenotype HPO
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.100 GeneticVariation disease GWASCAT Genome-wide association studies suggest that APOL1-environment interactions more likely trigger kidney disease in African Americans with nondiabetic nephropathy than strong APOL1-second gene interactions. 29885931 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.100 GeneticVariation group GWASCAT Genome-wide association studies suggest that APOL1-environment interactions more likely trigger kidney disease in African Americans with nondiabetic nephropathy than strong APOL1-second gene interactions. 29885931 2018
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.030 GeneticVariation disease BEFREE Mutations affecting the OTOGL gene have been recently connected with nonsyndromic sensorineural hearing loss. 28426234 2017
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.030 GeneticVariation disease BEFREE Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss. 25829320 2015
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.030 GeneticVariation disease BEFREE We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss. 23122586 2012
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.010 Biomarker disease BEFREE Because otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. 24378291 2015
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.010 Biomarker disease BEFREE Because otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. 24378291 2015