MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663 2016
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563 2015
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276 2012
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Retinal disease course in Usher syndrome 1B due to MYO7A mutations. 21873662 2011
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan. 19299023 2009
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. 15043528 2004
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996