MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Usher Syndrome, Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 24651602 2014
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256 2014
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. 23559863 2013
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Clinical utility gene card for: Usher syndrome. 21697857 2011
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 16679490 2006
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 15660226 2005
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 12112664 2002
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322 2000
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Identification of three novel mutations in the MYO7A gene. 10447383 1999
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549 1999
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. 10364543 1999
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. 9718356 1998
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. 9382091 1997
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. 9002678 1997
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996
dbSNP: rs782174733
rs782174733
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.700 GeneticVariation UNIPROT Defective myosin VIIA gene responsible for Usher syndrome type 1B. 7870171 1995