DISEASES

Disease-gene associations mined from literature

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Human genes for Coffin-Siris syndrome

Coffin-Siris syndrome [DOID:1925]

An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.

Synonyms:  Coffin-Siris syndrome,  CoffinSiris syndrome,  Coffin-Siris disease,  Coffin-Siris disorder,  Coffin-Siris 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.