DISEASES

Disease-gene associations mined from literature

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Human genes for infantile cerebellar-retinal degeneration

Infantile cerebellar-retinal degeneration [DOID:0050883]

A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.

Synonyms:  infantile cerebellar-retinal degeneration,  DOID:0050883,  infantile cerebellarretinal degeneration,  infantile cerebellar-retinal degenerations

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.