MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Usher Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033178
rs111033178
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		A 0.700 GeneticVariation CLINVAR Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549 1999