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 CausalMutation 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 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 Biomarker disease CLINGEN Myosin 7 and its adaptors link cadherins to actin. 28660889 2017
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 CausalMutation 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 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
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		1.000 Biomarker disease GENOMICS_ENGLAND
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 CausalMutation disease CLINVAR 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 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 CausalMutation disease CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
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 CausalMutation disease CLINVAR 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 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