DISEASES

Disease-gene associations mined from literature

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Human genes for hypomyelinating leukoencephalopathy

Hypomyelinating leukoencephalopathy [DOID:0050987]

An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.

Synonyms:  hypomyelinating leukoencephalopathy,  DOID:0050987,  hypomyelinating leukoencephalopathies

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.