DISEASES

Disease-gene associations mined from literature

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Human genes for Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4C [DOID:0110183]

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.

Synonyms:  Charcot-Marie-Tooth disease type 4C,  CharcotMarieTooth disease type 4C,  DOID:0110183,  autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C,  Charcot-Marie-Tooth neuropathy type 4C ...

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.