MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease BEFREE To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations. 31479088 2019
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment. 23148716 2012
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease BEFREE Thirty-two eyes from 16 patients (11 males and 5 females) with a genetic diagnosis of USH1 because of MYO7A mutations underwent SS-OCT. 31320737 2020
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211 2008
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. 27610647 2016
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276 2012
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		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
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease BEFREE The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes. 15660226 2005
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Advancing genetic testing for deafness with genomic technology. 23804846 2013
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease UNIPROT Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. 15043528 2004
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 24194196 2014
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease UNIPROT Identification of three novel mutations in the MYO7A gene. 10447383 1999
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease UNIPROT The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for. 16679490 2006
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. 20052763 2010
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease BEFREE Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. 22219650 2011
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053 2014
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256 2014
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease BEFREE The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I. 22690115 2012
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease UNIPROT The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes. 15660226 2005
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		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
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Functional analysis of splicing mutations in MYO7A and USH2A genes. 20497194 2011
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease CLINVAR Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. 23770805 2013
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 GeneticVariation disease BEFREE Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. 20844544 2010