DISEASES

Disease-gene associations mined from literature

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Human genes for Li-Fraumeni syndrome 2

Li-Fraumeni syndrome 2 [DOID:0111504]

A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in CHEK2 on chromosome 22q12.1.

Synonyms:  Li-Fraumeni syndrome 2,  DOID:0111504,  LiFraumeni syndrome 2,  LFS2

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.