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: rs397516332
rs397516332
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		A 0.700 GeneticVariation CLINVAR Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins. 28439001 2017
dbSNP: rs397516332
rs397516332
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		A 0.700 GeneticVariation CLINVAR Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322 2000