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 Biomarker disease BEFREE The mechanisms underlying retinal dystrophy in Usher syndrome type I (USH1) remain unknown because mutant mice lacking any of the USH1 proteins-myosin VIIa, harmonin, cadherin-23, protocadherin-15, sans-do not display retinal degeneration. 23045546 2012
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease BEFREE Four loci responsible for USH1 (USH1A, 1B, 1C and 1D) have previously been mapped, among which only the USH1B gene has been cloned. 9002666 1997
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 Biomarker disease BEFREE With regard to Usher type I (USH1), several subtypes have been described, the most frequent being USH1B located on chromosome 11q13.5. 9610802 1998
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 CausalMutation disease CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211 2008
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment. 23148716 2012
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211 2008
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 CausalMutation disease CLINVAR Of the at least six different loci for USH1, USH1B maps on chromosome 11q13, and the MYO7A gene has been shown to be defective in USH1B. 10094549 1999
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Identification of three novel mutations in the MYO7A gene. 10447383 1999
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276 2012
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1. 9002678 1997
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 CausalMutation disease CLINVAR The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for. 16679490 2006
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Advancing genetic testing for deafness with genomic technology. 23804846 2013
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. 15043528 2004
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 Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. 20052763 2010
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 CausalMutation disease CLINVAR Retinal disease course in Usher syndrome 1B due to MYO7A mutations. 21873662 2011
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 GeneticVariation disease CLINVAR Functional analysis of splicing mutations in MYO7A and USH2A genes. 20497194 2011