DISEASES

Disease-gene associations mined from literature

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Human genes for chondrodysplasia punctata

Chondrodysplasia punctata [DOID:2581]

A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.

Synonyms:  chondrodysplasia punctata,  chondrodysplasia punctatas,  DOID:2581,  Chondrodysplasia punctata congenita,  Chondrodysplasia punctata congenitas

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.