DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for nonprogressive cerebellar ataxia with mental retardation

Nonprogressive cerebellar ataxia with mental retardation [DOID:0050998]

An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.

Synonyms:  nonprogressive cerebellar ataxia with mental retardation,  DOID:0050998,  nonprogressive cerebellar ataxia with mental retardations

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.