- Disease-causing germline mutation(s) in Amyotrophic lateral sclerosis
- Disease-causing germline mutation(s) in Juvenile amyotrophic lateral sclerosis
- Part of a fusion gene in Myxofibrosarcoma
- Part of a fusion gene in Myxoid/round cell liposarcoma
- Major susceptibility factor in Frontotemporal dementia with motor neuron disease
- Major susceptibility factor in Hereditary essential tremor
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