Disease: Muscle hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808