paroxysmal nonkinesigenic dyskinesia

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NCBI Description of PNKD

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants.

Community Annotation of PNKD Add / Edit PNKD: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


PNKD is highly significantly mutated in
PNKD is significantly mutated in
PNKD is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for PNKD