MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker phenotype RGD Mutations in human MYO7A result in Usher syndrome type 1B, a severe autosomal inherited recessive disease that involves deafness and vestibular dysfunction. 15965244 2005
CUI: C0011053
Disease: Deafness
Deafness 		0.300 CausalMutation phenotype CLINVAR