DISEASES

Disease-gene associations mined from literature

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Human genes for oculoectodermal syndrome

Oculoectodermal syndrome [DOID:0111705]

An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in KRAS on chromosome 12p12.1.

Synonyms:  oculoectodermal syndrome,  DOID:0111705,  oculoectodermal disease,  oculoectodermal disorder,  oculoectodermal syndromes ...

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.