Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. 29048421

2018
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family. 28951997

2017
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. 27068579

2016
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 26226137

2016
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815

2015
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population. 25719458

2015
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. 24853665

2015
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
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: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. 24123792

2013
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Advancing genetic testing for deafness with genomic technology. 23804846

2013
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker CLINGEN Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. 23767834

2013