Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
1.000 Biomarker CLINGEN Myosin 7 and its adaptors link cadherins to actin. 28660889

2017

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
1.000 Biomarker CLINGEN Over-expression of myosin7A in cochlear hair cells of circling mice. 28400833

2017

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
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: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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: 64072
Gene Symbol: CDH23
CDH23
CUI: C1568247
Disease: Usher Syndrome, Type I
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: 64072
Gene Symbol: CDH23
CDH23
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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: 64072
Gene Symbol: CDH23
CDH23
CUI: C1568247
Disease: Usher Syndrome, Type I
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: 10083
Gene Symbol: USH1C
USH1C
CUI: C1568247
Disease: Usher Syndrome, Type I
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: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
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: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1568247
Disease: Usher Syndrome, Type I
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
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
0.500 Biomarker CLINGEN Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 11398101

2001

Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C1568247
Disease: Usher Syndrome, Type I
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: 10083
Gene Symbol: USH1C
USH1C
CUI: C1568247
Disease: Usher Syndrome, Type I
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