DISEASES

Disease-gene associations mined from literature

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Human genes for xeroderma pigmentosum group D

Xeroderma pigmentosum group D [DOID:0110845]

A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.

Synonyms:  xeroderma pigmentosum group D,  DOID:0110845,  xeroderma pigmentosum group Ds,  xeroderma pigmentosum IV,  xeroderma pigmentosum VIII ...

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.