Mutation in this gene have been shown to cause gray platelet syndrome.

Mutations in any one of the other four members of this complex have been shown to cause muscular dystrophy.

Mutations in this gene have been shown to cause 3-M syndrome.

Mutations in this gene have been shown to cause primary hypertrophic osteoarthropathy.

Mutations in several genes have been shown to cause dopamine-responsive dystonia.

Mutations in this gene have been shown to cause progressive external ophthalmoplegia.

Mutations in this gene have been shown associated to pathogenic mechanisms of Alzheimer's disease.

Mutations in this gene have been shown to cause heterotaxy.

Mutations in this gene have been shown to cause non-syndromic mental retardation.

Mutations in this gene have been shown to cause mitochondrial cardiomyopathy.