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 GeneticVariation disease BEFREE In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss) presentation, instead of USH1B. 28472130 2017
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease CLINGEN Myosin 7 and its adaptors link cadherins to actin. 28660889 2017
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease CLINGEN Over-expression of myosin7A in cochlear hair cells of circling mice. 28400833 2017
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE Most mutations in MYO7A gene caused USH1B, whereas only a few reported mutations led to DFNB2 and DFNA11. 26968074 2016
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 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: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 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: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE We also show that subretinal delivery in pigs of dual AAV trans-splicing and hybrid vectors successfully reconstitute, albeit at variable levels, the expression of the large genes ABCA4 and MYO7A mutated in STGD and USH1B, respectively. 24572793 2014
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease BEFREE Furthermore, given the absence of retinal disease in all affected patients examined, particularly a 28 year old patient, suggests that at least one family may segregate a DFNB2 presentation rather than USH1B. 24194196 2014
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease CLINGEN Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. 23559863 2013
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE Mutations in the myosin VIIa gene cause Usher syndrome type IB (USH1B), characterized by deaf-blindness. 23704327 2013
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE Mutations in MYO7A cause autosomal recessive Usher syndrome type IB (USH1B), one of the most frequent conditions that combine severe congenital hearing impairment and retinitis pigmentosa. 23991031 2013
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE PURPOSE.To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations.METHODS. 21873662 2011
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease MGD Mutations in the myosin VIIa gene (MYO7A) cause a common and severe subtype of Usher syndrome (USH1B).Shaker1 mice have mutant MYO7A. 21447681 2011
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 Biomarker disease BEFREE Thus, we conclude this family has non-syndromic hearing loss (DFNB2) rather than USH1B, providing further evidence that these two diseases represent discrete disorders. 20132242 2010
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 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: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.700 GeneticVariation disease BEFREE Laminar architecture of the central retina in MYO7A-USH1B ranged from normal to severely abnormal. 19074810 2009
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
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 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 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 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 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 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 Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. 10447383 1999