DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked dystonia-parkinsonism

X-linked dystonia-parkinsonism [DOID:0090057]

A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1.

Synonyms:  X-linked dystonia-parkinsonism,  DOID:0090057,  Xlinked dystoniaparkinsonism,  X-linked dystonia-parkinsonisms

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.