Mutations in this gene have been associated with Wilson's disease.

No mutation associated with disease has been linked to this protein.

Mutations in this gene have been associated to Alzheimer's disease.

Mutations in this gene have been associated with Parkinson's disease type 8.

Mutations in this gene are associated with complex I deficiency.

Mutations in this gene may be associated with Hirschsprung's disease.

Mutations in this gene have been associated with Leigh syndrome.

Mutations of this gene have also been associated with medulloblastoma.

Mutations in this gene have been associated with cancer.

Mutations in this gene have been associated with Turner syndrome and prostate cancer.