DISEASES

Disease-gene associations mined from literature

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Human genes for Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata syndrome [DOID:0050660]

A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.

Synonyms:  Beare-Stevenson cutis gyrata syndrome,  BeareStevenson cutis gyrata syndrome,  Beare-Stevenson cutis gyrata disease,  Beare-Stevenson cutis gyrata disorder,  Beare-Stevenson cutis gyrata syndromes ...

Linkouts:  OMIM

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.