Gene: MYO7A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815 2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603 2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 CausalMutation disease CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 CausalMutation disease CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR FERM domain-containing unconventional myosin VIIA interacts with integrin β5 subunit and regulates αvβ5-mediated cell adhesion and migration. 24997346 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 CausalMutation disease CLINVAR Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 24618850 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease BEFREE Therefore, we concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A. 25080338 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease BEFREE Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 Biomarker disease CLINGEN Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. 25211151 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. 25558175 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. 24105371 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family. 25080338 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease UNIPROT Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 24618850 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Targeted exon sequencing in Usher syndrome type I. 25468891 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease BEFREE Mutations in the MYO7A gene are the most common cause of Usher syndrome type 1, characterized by profound congenital deafness, vestibular arreflexia, and progressive retinal degeneration. 24199935 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Advancing genetic testing for deafness with genomic technology. 23804846 2013