Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Inclusion body myopathy and brain white matter abnormalities (12.77, 12.114) | 619733 | ANXA11 (10q23.3) Annexin A11       |
| Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.37, 4.22, 12.68, 1.57, 14.67) | 167320 | VCP (9p13-p12) Valosin-containing protein |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.38, 5.21) | 615422 | HNRNPA2B1 (7q15.2) Hetergeneous nuclear ribonucleoprotein A2/B1 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (5.37, 4.22, 12.68, 1.57, 14.67) | 167320 | VCP (9p13-p12) Valosin-containing protein |
| Inclusion body myopathy, autosomal recessive (4.5) | 600737 | GNE (9p13.3) UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase |
| Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.33) | 251950 | PNPLA8 (7q31.1) Patatin-like phospholipase domain containing 8 (M) |
| Infantile-onset multisystem disease with progressive muscle weakness (16.28) | 616263 | PTRH2 (17q23.1) Peptidyl-tRNA Hydrolase 2 (M) |
| Inherited peripheral neuropathy (12.54, 12.55, 12.49, 14.82) | SOD1 (21q22.1) Superoxide dismutase 1, soluble | |
| Isolated inclusion body myopathy (4.7, 12.74, 3.34) | 615424 | HNRNPA1 (12q13.13) Heterogeneous nuclear ribonucleoprotein A1 |