DISEASES

Disease-gene associations mined from literature

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

Charcot-Marie-Tooth disease type 4K [DOID:0110187]

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.

Synonyms:  Charcot-Marie-Tooth disease type 4K,  CharcotMarieTooth disease type 4K,  DOID:0110187,  CMT4K,  SURF1-related CMT4 ...

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.