MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease CLINGEN Myosin 7 and its adaptors link cadherins to actin. 28660889 2017
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease CLINGEN Over-expression of myosin7A in cochlear hair cells of circling mice. 28400833 2017
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease 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
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease CLINGEN Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. 25211151 2014
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease CLINGEN Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. 23559863 2013
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease MGD Moderate light-induced degeneration of rod photoreceptors with delayed transducin translocation in shaker1 mice. 21447681 2011
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease MGD A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells. 20016096 2009
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease CLINGEN Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211 2008
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease MGD A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. 17329413 2007
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease MGD A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. 15389316 2004
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease CLINGEN Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness. 10958658 2000
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease MGD Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. 9435277 1998
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease MGD Mutation analysis of the mouse myosin VIIA deafness gene. 9680294 1997
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease CLINGEN Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. 8622919 1996
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease CLINGEN A type VII myosin encoded by the mouse deafness gene shaker-1. 7870172 1995
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease MGD The pattern of sensorineural degeneration in the cochlea of the deaf shaker-1 mouse: ultrastructural observations. 6627025 1983
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease MGD HEARING DEGENERATION IN SHAKER-1 MOUSE. CORRELATION OF PHYSIOLOGICAL OBSERVATIONS WITH BEHAVIORAL RESPONSES AND WITH COCHLEAR ANATOMY. 14198707 1964
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.500 Biomarker disease MGD The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. 13336002 1956