DISEASES

Disease-gene associations mined from literature

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Human genes for palmoplantar keratoderma-esophageal carcinoma syndrome

Palmoplantar keratoderma-esophageal carcinoma syndrome [DOID:0111506]

A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in RHBDF2 on chromosome 17q25.1.

Synonyms:  palmoplantar keratoderma-esophageal carcinoma syndrome,  DOID:0111506,  palmoplantar keratodermaesophageal carcinoma syndrome,  palmoplantar keratoderma-esophageal carcinoma disease,  palmoplantar keratoderma-esophageal carcinoma disorder ...

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.