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: rs1555067667
rs1555067667
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment. 23148716 2012
dbSNP: rs1555067667
rs1555067667
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function. 18700726 2008
dbSNP: rs1555067667
rs1555067667
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. 16470552 2006
dbSNP: rs1555067667
rs1555067667
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation 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