DISEASES

Disease-gene associations mined from literature

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Human genes for Charcot-Marie-Tooth disease axonal type 2Q

Charcot-Marie-Tooth disease axonal type 2Q [DOID:0110170]

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.

Synonyms:  Charcot-Marie-Tooth disease axonal type 2Q,  CharcotMarieTooth disease axonal type 2Q,  DOID:0110170,  CMT2Q,  Charcot-Marie-Tooth neuropathy type 2Q ...

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.