DISEASES

Disease-gene associations mined from literature

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Human genes for Pfeiffer syndrome

Pfeiffer syndrome [DOID:14705]

An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.

Synonyms:  Pfeiffer syndrome,  DOID:14705,  Pfeiffer disease,  Pfeiffer disorder,  Pfeiffer 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.