MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Usher syndrome, type 1B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 GeneticVariation disease BEFREE Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B). 28472130 2017
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 GeneticVariation disease BEFREE Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2. 28346292 2017
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 Biomarker disease BEFREE Mutations in MYO7A gene have been reported to be associated with Usher Syndrome type 1B (USH1B) and nonsyndromic hearing loss (DFNB2, DFNA11). 26968074 2016
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 Biomarker disease BEFREE Human myosin VIIA (HM7A) is responsible for human Usher syndrome type 1B, which causes hearing and visual loss in humans.Here we studied the regulation of HM7A. 26001786 2015
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 Biomarker disease BEFREE Variants in the head and tail domains of the MYO7A gene, encoding myosin VIIA, cause Usher syndrome type 1B (USH1B) and nonsyndromic deafness (DFNB2, DFNA11). 24194196 2014
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 Biomarker disease BEFREE Myosin VIIA mutations have been associated with non-syndromic hearing loss (DFNB2; DFNA11) and Usher syndrome type 1B (USH1B). 20132242 2010
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 GeneticVariation disease BEFREE To study retinal microstructure in Usher Syndrome type 1B (USH1B) caused by MYO7A mutations as a prelude to treatment initiatives. 19074810 2009
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 GeneticVariation disease BEFREE Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C. 17960123 2007
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 GeneticVariation disease BEFREE Mutations in the myosin VIIa gene (MYO7A) cause a major subtype of Usher syndrome, type 1B. 17268537 2007
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 GeneticVariation disease BEFREE Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B). 16470552 2006
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 GeneticVariation disease BEFREE Mutations in human MYO7A result in Usher syndrome type 1B, a severe autosomal inherited recessive disease that involves deafness and vestibular dysfunction. 15965244 2005
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 Biomarker disease BEFREE Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11). 15221449 2004
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 Biomarker disease BEFREE To characterize the audiovestibular phenotype of DFNA11, an autosomal dominant nonsyndromic hearing impairment caused by a mutation in the myosin VIIA gene (MYO7A), including whether DFNA11-affected subjects have retinal degeneration as is characteristic of Usher syndrome type 1B, caused by different MYO7A mutations. 11889386 2002
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 GeneticVariation disease BEFREE The discovery that the mouse shaker1 (Myo7(ash1)) locus encodes myosin VIIA led immediately to the identification of mutations in this gene in Usher syndrome type 1B; subsequently, mutations in this gene were also found associated with recessive and dominant nonsyndromic hearing loss (DFNB2 and DFNA11). 10704189 1999
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 GeneticVariation disease BEFREE Recently, it has been shown that a gene encoding an unconventional myosin, myosin VIIA, underlies the mouse recessive deafness mutation, shaker-1 (ref.5) as well as Usher syndrome type 1b. 9171832 1997
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 Biomarker disease BEFREE The human myosin VIIA gene, located on 11q14, has been shown to be responsible for Usher syndrome type 1B (USH1B). 9382091 1997
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 GeneticVariation disease BEFREE Defective myosin VIIA gene responsible for Usher syndrome type 1B. 7870171 1995
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		0.400 Biomarker disease CTD_human