DISEASES

Disease-gene associations mined from literature

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Human genes for Charcot-Marie-Tooth disease type 2J

Charcot-Marie-Tooth disease type 2J [DOID:0110157]

A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

Synonyms:  Charcot-Marie-Tooth disease type 2J,  CharcotMarieTooth disease type 2J,  DOID:0110157,  Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities,  Charcot-Marie-Tooth neuropathy type 2J ...

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.