DISEASES

Disease-gene associations mined from literature

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Human genes for Cornelia de Lange syndrome 3

Cornelia de Lange syndrome 3 [DOID:0080507]

A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.

Synonyms:  Cornelia de Lange syndrome 3,  DOID:0080507,  CDLS3,  Cornelia De Lange syndrome 3 with or without midline brain defects

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.