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 GENOMICS_ENGLAND
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 Biomarker disease BEFREE Usher syndrome type I (US1) is an autosomal recessive condition in which three different genes have been already localised (USH1A, USH1B, and USH1C on chromosomes 14q32, 11q13, and 11p15 respectively). 8825055 1996
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease UNIPROT Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease BEFREE Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 Biomarker disease MGD A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. 17329413 2007
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 Biomarker disease MGD A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. 15389316 2004
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 Biomarker disease MGD A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells. 20016096 2009
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 Biomarker disease CLINGEN A type VII myosin encoded by the mouse deafness gene shaker-1. 7870172 1995
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 BEFREE After MYO7A mutation analysis, the patient was diagnosed with RP, and therefore, also diagnosed with USH1. 23237960 2013
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		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 BEFREE Based on clinical findings, it was also highly likely that one patient with MYO7A mutations possessed USH1 due to a late onset age of walking. 26791358 2016
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 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298 2011
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 CausalMutation disease CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298 2011
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. 27729122 2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		1.000 GeneticVariation disease CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
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 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 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 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 Biomarker disease GENOMICS_ENGLAND Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib. 9843659 1998