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 Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. 26309859 2015
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. 24105371 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. 25558175 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation 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 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 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 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 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 CausalMutation disease CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation 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 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 CausalMutation 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 FERM domain-containing unconventional myosin VIIA interacts with integrin β5 subunit and regulates αvβ5-mediated cell adhesion and migration. 24997346 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. 24105371 2014
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. 23451239 2013
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. 24164807 2013
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. 23559863 2013
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 CausalMutation disease CLINVAR Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. 23451239 2013
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 CausalMutation 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 Advancing genetic testing for deafness with genomic technology. 23804846 2013
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276 2012