DISEASES

Disease-gene associations mined from literature

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Human genes for Abruzzo-Erickson syndrome

Abruzzo-Erickson syndrome [DOID:0111826]

A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in TBX22 on chromosome Xq21.1.

Synonyms:  Abruzzo-Erickson syndrome,  AbruzzoErickson syndrome,  Abruzzo-Erickson disease,  Abruzzo-Erickson disorder,  Abruzzo-Erickson 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.