Entrez Id: |
4647 |
Gene Symbol: |
MYO7A |
MYO7A
|
USHER SYNDROME, TYPE IA, FORMERLY
|
0.500 |
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 IA, FORMERLY
|
0.500 |
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 IA, FORMERLY
|
0.500 |
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 IA, FORMERLY
|
0.300 |
Biomarker |
CLINGEN |
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
|
10973247 |
2000 |
Entrez Id: |
10083 |
Gene Symbol: |
USH1C |
USH1C
|
USHER SYNDROME, TYPE IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
0.300 |
Biomarker |
CLINGEN |
Two families from New England with usher syndrome type IC with distinct haplotypes.
|
11239869 |
2001 |
Entrez Id: |
65217 |
Gene Symbol: |
PCDH15 |
PCDH15
|
USHER SYNDROME, TYPE IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
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: |
65217 |
Gene Symbol: |
PCDH15 |
PCDH15
|
USHER SYNDROME, TYPE IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
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 IA, FORMERLY
|
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 IA, FORMERLY
|
0.300 |
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 IA, FORMERLY
|
0.300 |
Biomarker |
CLINGEN |
SANS (USH1G) expression in developing and mature mammalian retina.
|
17923142 |
2008 |
Entrez Id: |
4647 |
Gene Symbol: |
MYO7A |
MYO7A
|
USHER SYNDROME, TYPE IA, FORMERLY
|
0.500 |
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 IA, FORMERLY
|
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 IA, FORMERLY
|
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 IA, FORMERLY
|
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 IA, FORMERLY
|
0.300 |
Biomarker |
CLINGEN |
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.
|
21689626 |
2011 |