MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: USHER SYNDROME, TYPE IB (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease CLINVAR
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease MGD The pattern of sensorineural degeneration in the cochlea of the deaf shaker-1 mouse: ultrastructural observations. 6627025 1983
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease CLINGEN A type VII myosin encoded by the mouse deafness gene shaker-1. 7870172 1995
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 AlteredExpression disease BEFREE In situ hybridization analysis in human embryos demonstrates that the myosin VIIA gene is expressed in the pigment epithelium and the photoreceptor cells of the retina, thus indicating that both cell types may be involved in the USH1B retinal degenerative process. 8622919 1996
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease CLINGEN In situ hybridization analysis in human embryos demonstrates that the myosin VIIA gene is expressed in the pigment epithelium and the photoreceptor cells of the retina, thus indicating that both cell types may be involved in the USH1B retinal degenerative process. 8622919 1996
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. 9002678 1997
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A). 9070921 1997
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE In 15 families myosin VIIA mutations were detected, verifying their classification as USH1B. 9382091 1997
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease MGD Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. 9435277 1998
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease MGD Mutation analysis of the mouse myosin VIIA deafness gene. 9680294 1997
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome. 9703432 1998
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib. 9843659 1998
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE For example, mutations in the gene encoding MYO7A cause Usher syndrome type IB, autosomal-recessive nonsyndromic hearing impairment (DFNB2), and autosomal-dominant nonsyndromic hearing impairment (DFNA11). 9927480 1999
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. 10447383 1999
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease CLINGEN Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness. 10958658 2000
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE MYO7A mutations are responsible for Usher syndrome type Ib, the most common genetic subtype of Usher I. 11992483 2002
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease MGD The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. 13336002 1956
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease MGD HEARING DEGENERATION IN SHAKER-1 MOUSE. CORRELATION OF PHYSIOLOGICAL OBSERVATIONS WITH BEHAVIORAL RESPONSES AND WITH COCHLEAR ANATOMY. 14198707 1964
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease MGD A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. 15389316 2004
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B). 16470552 2006
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 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: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE We analyzed a large consanguineous USH1 family from Morocco and linked the disease in this family to the MYO7A/USH1B locus. 17960123 2007
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease CLINGEN Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211 2008
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 AlteredExpression disease BEFREE The missense mutations of USH1B significantly inhibited the actin activation of ATPase activity of myosin VIIa. 18700726 2008