DISEASES

Disease-gene associations mined from literature

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Human genes for Noonan syndrome with multiple lentigines 1

Noonan syndrome with multiple lentigines 1 [DOID:0080548]

A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.

Synonyms:  Noonan syndrome with multiple lentigines 1,  DOID:0080548,  LEOPARD syndrome 1

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.