DISEASES

Disease-gene associations mined from literature

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Human genes for Potocki-Lupski syndrome

Potocki-Lupski syndrome [DOID:0060853]

A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.

Synonyms:  Potocki-Lupski syndrome,  DOID:0060853,  PotockiLupski syndrome,  Potocki-Lupski disease,  Potocki-Lupski 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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.