Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Oculopharyngeal muscular dystorphy (5.18)
164300
PABPN1 (14q11.2-q13)
Poly(A) binding protein, nuclear 1



Oculopharyngodistal myopathy 1 (5.19)
164310
LRP12 (8q22.3)
Low density lipoprotein receptor-related protein 12



Oculopharyngodistal myopathy 2 (5.20)
618940
GIPC1 (19p13.12)
GIPC PDZ Domain-containing family, member 1



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



Olivopontocerebellar atrophy II (13.2, 12.56)
183090
ATXN2 (12q24.12)
Ataxin 2



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