Disease Term Disease ID Gene Symbol Classification References Source
Miyoshi Muscular Dystrophy 3 C2750076 ANO5 Causal Pathogenic evidence from ClinVar 20096397, 22499103, 22980764, 25929793 ClinVar
Miyoshi Muscular Dystrophy 1 C4551973 DYSF Causal Pathogenic evidence from ClinVar 9731526, 10196377, 11134403, 11468312, 11959863, 12796534, 15116377, 15469449, 15477515, 15515206, 15535137, 16010686, 16100712, 17287450, 17868276, 18306167, 18853459, 25821721, 25929793 ClinVar