DISEASES

Disease-gene associations mined from literature

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Human genes for geleophysic dysplasia

Geleophysic dysplasia [DOID:0111724]

A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.

Synonyms:  geleophysic dysplasia,  DOID:0111724,  geleophysic dysplasias,  geleophysic dwarfism,  GPHYSD ...

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.