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: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker CLINGEN Myosin 7 and its adaptors link cadherins to actin. 28660889

2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker CLINGEN Over-expression of myosin7A in cochlear hair cells of circling mice. 28400833

2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 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: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 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: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 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
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, 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: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 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: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, 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
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker CLINGEN A type VII myosin encoded by the mouse deafness gene shaker-1. 7870172

1995