DISEASES

Disease-gene associations mined from literature

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Human genes for distal hereditary motor neuronopathy type 2C

Distal hereditary motor neuronopathy type 2C [DOID:0111209]

A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB3 on 5q11.2.

Synonyms:  distal hereditary motor neuronopathy type 2C,  distal familial motor neuronopathy type 2C,  DOID:0111209,  DHMN2C,  distal hereditary motor neuropathy type IIC ...

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.