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Entry Name Description Category Pathway Gene
H02390 Autosomal recessive neuromyotonia and axonal neuropathy ... muscular wasting and increased perspiration. It has been reported that loss-of-function mutations in HINT1 cause this disease. HINT1 ubiquitously expressed in mammalian tissues, and it is a tumor suppressor ... Nervous system disease HINT1 [HSA:3094] [KO:K02503]
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