DISEASES

Disease-gene associations mined from literature

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Human genes for Desbuquois dysplasia

Desbuquois dysplasia [DOID:0060462]

An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.

Synonyms:  Desbuquois dysplasia,  Desbuquois dysplasias,  DOID:0060462,  Desbuquois syndrome,  micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification ...

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.