Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Oculopharyngeal muscular dystorphy (5.20) | 164300 | PABPN1 (14q11.2-q13) Poly(A) binding protein, nuclear 1       |
| Oculopharyngeal muscular dystrophy related to HNRNPA2B1 (5.38, 5.21) | HNRNPA2B1 (7q15.2) Hetergeneous nuclear ribonucleoprotein A2/B1 | |
| Oculopharyngeal myopathy with leukoencephalopathy 1 (5.28, 5.27) | 618637 | NUTM2B-AS1 (10q22.3) NUTM2B antisens RNA 1 |
| Oculopharyngodistal myopathy (14.140, 5.24, 14.78) | NOTCH2NLC (1q21.2) Notch2 N-terminal-like protein | |
| Oculopharyngodistal myopathy (5.28, 5.27) | NUTM2B-AS1 (10q22.3) NUTM2B antisens RNA 1 | |
| Oculopharyngodistal myopathy 1 (5.22, 12.82) | 164310 | LRP12 (8q22.3) Low density lipoprotein receptor-related protein 12 |
| Oculopharyngodistal myopathy 2 (5.23) | 618940 | GIPC1 (19p13.12) GIPC PDZ Domain-containing family, member 1 |
| Oculopharyngodistal myopathy 4 (5.25) | 619790 | RILPL1 (12q24.31) Rab-interacting lysosomal protein-like 1 |
| Oculopharyngodistal myopathy 5 (5.26) | ABCD3 (1p21.3) ATP-binding cassette, subfamily D, member 3 | |
| Olivopontocerebellar atrophy I (13.1) | 164400 | ATXN1 (6p22.3) Ataxin 1 |
| Olivopontocerebellar atrophy II (13.2, 12.67) | 183090 | ATXN2 (12q24.12) Ataxin 2 |
| Olivopontocerebellar atrophy III (13.7) | 164500 | ATXN7 (3p14) Ataxin 7 |