rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
A
0.800
CausalMutation
CLINVAR
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
27460420
2016
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
A
0.800
CausalMutation
CLINVAR
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
26791358
2016
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
25798947
2015
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
24831256
2014
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.
24651602
2014
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
A
0.800
CausalMutation
CLINVAR
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.
23451239
2013
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.
23559863
2013
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
A
0.800
CausalMutation
CLINVAR
Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.
21311020
2011
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
A
0.800
CausalMutation
CLINVAR
Four-year follow-up of diagnostic service in USH1 patients.
21436283
2011
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: Usher syndrome.
21697857
2011
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
A
0.800
CausalMutation
CLINVAR
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
18181211
2008
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
A
0.800
CausalMutation
CLINVAR
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
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
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
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
A
0.800
CausalMutation
CLINVAR
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
16470552
2006
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
15660226
2005
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
A
0.800
CausalMutation
CLINVAR
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
12112664
2002
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
12112664
2002
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
10930322
2000
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
10094549
1999
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.
10364543
1999
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
A
0.800
CausalMutation
CLINVAR
Identification of three novel mutations in the MYO7A gene.
10447383
1999
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Identification of three novel mutations in the MYO7A gene.
10447383
1999
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.
9718356
1998
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
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
rs111033214
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
Usher Syndrome, Type I
0.800
GeneticVariation
UNIPROT
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
9002678
1997