DISEASES

Disease-gene associations mined from literature

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Human genes for Coffin-Siris syndrome 3

Coffin-Siris syndrome 3 [DOID:0070045]

A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23.

Synonyms:  Coffin-Siris syndrome 3,  CoffinSiris syndrome 3,  DOID:0070045,  autosomal dominant mental retardation 15,  CSS3 ...

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.