DISEASES

Disease-gene associations mined from literature

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Human genes for Charcot-Marie-Tooth disease type 6

Charcot-Marie-Tooth disease type 6 [DOID:0080068]

A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.

Synonyms:  Charcot-Marie-Tooth disease type 6,  CharcotMarieTooth disease type 6,  DOID:0080068,  hereditary motor and sensory neuropathy type 6,  familial motor and sensory neuropathy type 6

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.