MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 16679490 2006
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR USH1A: chronicle of a slow death. 16400615 2006
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Molecular epidemiology of Usher syndrome in Italy. 21738395 2011
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 24194196 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 24618850 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 17361009 2007
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Targeted exon sequencing in Usher syndrome type I. 25468891 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. 23208854 2013
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. 16470552 2006
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999 2010
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. 20844544 2010
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. 27729122 2016
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283 2015
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family. 25080338 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Usher syndrome in Denmark: mutation spectrum and some clinical observations. 27957503 2016
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Functional analysis of splicing mutations in MYO7A and USH2A genes. 20497194 2011
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease UNIPROT Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. 9171832 1997
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. 23770805 2013
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Retinal disease course in Usher syndrome 1B due to MYO7A mutations. 21873662 2011
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. 26561413 2015