×
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: 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: 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: 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: 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
×
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: 124590
Gene Symbol: USH1G
USH1G
Usher Syndrome, Type I
0.450
Biomarker
CLINGEN
Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.
22381527 2012
×
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
Usher Syndrome, Type I
0.450
Biomarker
CLINGEN
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
27583663 2016
×
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: 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: 4647
Gene Symbol: MYO7A
MYO7A
Usher Syndrome, Type I
1.000
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: 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: 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: 124590
Gene Symbol: USH1G
USH1G
Usher Syndrome, Type I
0.450
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: 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
In this study, we identified two novel mutations, c.3742G>A (p.E1248K) and c.6051+1G>A (donor splice site mutation in intron 44), of MYO7A in a Chinese non-consanguineous family with USH1 .
23559863 2013
×
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: 4647
Gene Symbol: MYO7A
MYO7A
Usher Syndrome, Type I
1.000
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 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: 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: 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: 4647
Gene Symbol: MYO7A
MYO7A
Usher Syndrome, Type I
1.000
Biomarker
CLINGEN
Myosin 7 and its adaptors link cadherins to actin.
28660889 2017
×
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
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