DISEASES

Disease-gene associations mined from literature

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Human genes for episodic kinesigenic dyskinesia 1

Episodic kinesigenic dyskinesia 1 [DOID:0090053]

A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.

Synonyms:  episodic kinesigenic dyskinesia 1,  DOID:0090053,  Paroxysmal kinesigenic choreoathetosis,  Paroxysmal kinesigenic choreoathetosises

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.