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: rs111033283
rs111033283
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR Targeted exon sequencing in Usher syndrome type I. 25468891 2014
dbSNP: rs111033283
rs111033283
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. 23451239 2013
dbSNP: rs111033283
rs111033283
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276 2012
dbSNP: rs111033283
rs111033283
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR Four-year follow-up of diagnostic service in USH1 patients. 21436283 2011
dbSNP: rs111033283
rs111033283
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999 2010
dbSNP: rs111033283
rs111033283
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211 2008
dbSNP: rs111033283
rs111033283
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. 16470552 2006
dbSNP: rs111033283
rs111033283
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. 9382091 1997