×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
USHER SYNDROME, TYPE IB (disorder)
0.700
Biomarker
CLINGEN
Myosin 7 and its adaptors link cadherins to actin.
28660889 2017
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
USHER SYNDROME, TYPE IB (disorder)
0.700
Biomarker
CLINGEN
Over-expression of myosin7A in cochlear hair cells of circling mice.
28400833 2017
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
USHER SYNDROME, TYPE IB (disorder)
0.700
Biomarker
CLINGEN
Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells.
27013738 2016
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
USHER SYNDROME, TYPE IB (disorder)
0.700
Biomarker
CLINGEN
Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.
25211151 2014
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
USHER SYNDROME, TYPE IB (disorder)
0.700
Biomarker
CLINGEN
Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.
23559863 2013
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
USHER SYNDROME, TYPE IB (disorder)
0.700
Biomarker
CLINGEN
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
18181211 2008
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
USHER SYNDROME, TYPE IB (disorder)
0.700
Biomarker
CLINGEN
Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.
10958658 2000
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
USHER SYNDROME, TYPE IB (disorder)
0.700
Biomarker
CLINGEN
In situ hybridization analysis in human embryos demonstrates that the myosin VIIA gene is expressed in the pigment epithelium and the photoreceptor cells of the retina, thus indicating that both cell types may be involved in the USH1B retinal degenerative process.
8622919 1996
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
USHER SYNDROME, TYPE IB (disorder)
0.700
Biomarker
CLINGEN
A type VII myosin encoded by the mouse deafness gene shaker-1.
7870172 1995
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
27583663 2016
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.
26936824 2016
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
25798947 2015
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
24608321 2014
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.
22381527 2012
×
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.
21689626 2011
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.
21436032 2011
×
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
20513143 2010
×
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Novel mutations in the USH1C gene in Usher syndrome patients.
21203349 2010
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
SANS (USH1G) expression in developing and mature mammalian retina.
17923142 2008
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Duplicated genes with split functions: independent roles of protocadherin15 orthologues in zebrafish hearing and vision.
15634702 2005
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).
15928608 2005
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Drosophila melanogaster Cad99C, the orthologue of human Usher cadherin PCDH15, regulates the length of microvilli.
16260500 2005
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15.
12782354 2003
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
12588794 2003
×
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
USHER SYNDROME, TYPE IB (disorder)
0.300
Biomarker
CLINGEN
The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.
12407180 2002