Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779

2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. 28472130

2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. 27610647

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 CausalMutation CLINVAR Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. 27440999

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. 27068579

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 CausalMutation CLINVAR Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. 27610647

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 CausalMutation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. 27729122

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 CausalMutation CLINVAR Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. 26791358

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Usher syndrome in Denmark: mutation spectrum and some clinical observations. 27957503

2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. 26309859

2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 CausalMutation CLINVAR Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815

2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563

2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603

2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 CausalMutation CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053

2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 24194196

2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053

2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405

2014