×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Usher Syndrome, Type I
1.000
Biomarker
CLINGEN
A type VII myosin encoded by the mouse deafness gene shaker-1.
7870172 1995
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Usher Syndrome, Type I
1.000
Biomarker
CLINGEN
Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.
8622919 1996
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Usher Syndrome, Type I
1.000
Biomarker
CLINGEN
Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.
10958658 2000
×
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
Usher Syndrome, Type I
0.500
Biomarker
CLINGEN
Here, we report a gene underlying USH1C (MIM 276904), a USH1 subtype described in a population of Acadian descendants from Louisiana and in a Lebanese family.
10973247 2000
×
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
Usher Syndrome, Type I
0.500
Biomarker
CLINGEN
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
10973248 2000
×
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Usher Syndrome, Type I
0.700
Biomarker
CLINGEN
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
11090341 2001
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Usher Syndrome, Type I
0.500
Biomarker
CLINGEN
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.
11138007 2001
×
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
Usher Syndrome, Type I
0.500
Biomarker
CLINGEN
Of 46 unrelated cases of Usher syndrome type I residing in New England, two were homozygous at genetic markers in the USH1C region.
11239869 2001
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Usher Syndrome, Type I
0.500
Biomarker
CLINGEN
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
11398101 2001
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Usher Syndrome, Type I
0.500
Biomarker
CLINGEN
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
11487575 2001
×
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Usher Syndrome, Type I
0.700
Biomarker
CLINGEN
Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23).
11750125 2001
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
Usher Syndrome, Type I
0.450
Biomarker
CLINGEN
A novel locus for Usher syndrome type I , USH1G , maps to chromosome 17q24-25.
11941484 2002
×
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Usher Syndrome, Type I
0.700
Biomarker
CLINGEN
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
12075507 2002
×
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Usher Syndrome, Type I
0.700
Biomarker
CLINGEN
The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.
12407180 2002
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
Usher Syndrome, Type I
0.450
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: 65217
Gene Symbol: PCDH15
PCDH15
Usher Syndrome, Type I
0.500
Biomarker
CLINGEN
A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15.
12782354 2003
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Usher Syndrome, Type I
0.500
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 I
0.500
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 I
0.500
Biomarker
CLINGEN
Drosophila melanogaster Cad99C, the orthologue of human Usher cadherin PCDH15, regulates the length of microvilli.
16260500 2005
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
Usher Syndrome, Type I
0.450
Biomarker
CLINGEN
SANS (USH1G) expression in developing and mature mammalian retina.
17923142 2008
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Usher Syndrome, Type I
1.000
Biomarker
CLINGEN
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
18181211 2008
×
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Usher Syndrome, Type I
0.700
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 I
0.500
Biomarker
CLINGEN
The aim of the present work was the mutation screening of the USH1C gene in a cohort of 33 Usher syndrome patients, to identify the genetic cause of the disease and to determine the relative involvement of this gene in USH1 pathogenesis in the Spanish population.
21203349 2010
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
Usher Syndrome, Type I
0.450
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 I
0.700
Biomarker
CLINGEN
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.
21689626 2011