DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Jansen's metaphyseal chondrodysplasia

Jansen's metaphyseal chondrodysplasia [DOID:0080020]

A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.

Synonyms:  Jansen's metaphyseal chondrodysplasia,  DOID:0080020,  Jansens metaphyseal chondrodysplasia,  Jansen Disease,  Jansen metaphyseal chondrodysplasia ...

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.