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.