DISEASES

Disease-gene associations mined from literature

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Human genes for Helsmoortel-Van Der Aa Syndrome

Helsmoortel-Van Der Aa Syndrome [DOID:0070058]

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of ADNP on chromosome 20q13.13.

Synonyms:  Helsmoortel-Van Der Aa Syndrome,  DOID:0070058,  HelsmoortelVan Der Aa Syndrome,  Helsmoortel-Van Der Aa disease,  Helsmoortel-Van Der Aa disorder ...

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.