DISEASES

Disease-gene associations mined from literature

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Human genes for xeroderma pigmentosum group E

Xeroderma pigmentosum group E [DOID:0110846]

A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.

Synonyms:  xeroderma pigmentosum group E,  DOID:0110846,  xeroderma pigmentosum group Es,  xeroderma pigmentosum V,  XP5 ...

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.