DISEASES

Disease-gene associations mined from literature

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

Charcot-Marie-Tooth disease type 2DD [DOID:0111558]

A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in ATP1A1 on chromosome 1p13.1.

Synonyms:  Charcot-Marie-Tooth disease type 2DD,  CharcotMarieTooth disease type 2DD,  DOID:0111558,  ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2,  ATP1A1-related CMT2 ...

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.