Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Oculopharyngeal muscular dystorphy (5.21)
164300
PABPN1 (14q11.2-q13)
Poly(A) binding protein, nuclear 1



Oculopharyngeal muscular dystrophy related to HNRNPA2B1 (5.36, 5.26)
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1



Oculopharyngodistal myopathy (14.137, 5.24, 14.84)
NOTCH2NLC (1q21.2)
Notch2 N-terminal-like protein



Oculopharyngodistal myopathy 1 (5.22, 12.77)
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



Olivopontocerebellar atrophy I (13.1)
164400
ATXN1 (6p22.3)
Ataxin 1



Olivopontocerebellar atrophy II (13.2, 12.64)
183090
ATXN2 (12q24.12)
Ataxin 2



Olivopontocerebellar atrophy III (13.7)
164500
ATXN7 (3p14)
Ataxin 7