MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Circling behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3668948
Disease: Circling behavior
Circling behavior 		0.020 Biomarker phenotype BEFREE Mutations in the <i>MYO7A</i> gene, encoding the motor protein myosin VIIa, can cause Usher 1B, a deafness/blindness syndrome in humans, and the shaker-1 phenotype, characterized by deafness, head tossing, and circling behavior, in mice. 29167268 2018
CUI: C3668948
Disease: Circling behavior
Circling behavior 		0.020 GeneticVariation phenotype BEFREE Mutations of MYO7A are responsible for abnormal shaping of hair bundles, resulting in human deafness and murine deafness/circling behavior. 25556989 2015