DISEASES

Disease-gene associations mined from literature

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Human genes for Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease type 1E [DOID:0110153]

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).

Synonyms:  Charcot-Marie-Tooth disease type 1E,  CharcotMarieTooth disease type 1E,  DOID:0110153,  autosomal dominant Charcot-Marie-Tooth neuropathy and deafness,  Charcot-Marie-Tooth disease and deafness ...

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.