MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Deafness, Autosomal Dominant 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 GeneticVariation disease BEFREE Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). 23383098 2013
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 GeneticVariation disease UNIPROT Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. 15121790 2004
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 GeneticVariation disease BEFREE Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). 15221449 2004
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 GeneticVariation disease UNIPROT Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). 15300860 2004
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 GeneticVariation disease UNIPROT Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). 15221449 2004
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 GeneticVariation disease BEFREE Showing moderate hearing loss with asymptomatic variable vestibular dysfunction and no retinal degeneration, the DFNA11 phenotype is mildest among phenotypes caused by MYO7A mutations. 11889386 2002
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 GeneticVariation disease BEFREE Although a wide spectrum of MYO7A mutations have been identified in Usher Ib patients, four mutations have been reported to cause DFNB2, a recessive deafness without retinal degeneration, and one mutation has been implicated in a single case of dominant nonsyndromic hearing loss (DFNA11). 11992483 2002
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 Biomarker disease GENOMICS_ENGLAND Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib. 9843659 1998
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 GeneticVariation disease UNIPROT Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 9354784 1997
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 Biomarker disease CTD_human
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 CausalMutation disease CLINVAR
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		0.740 GeneticVariation disease CLINVAR