DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for multiple epiphyseal dysplasia 6

Multiple epiphyseal dysplasia 6 [DOID:0070301]

A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13.

Synonyms:  multiple epiphyseal dysplasia 6,  DOID:0070301,  EDM6

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.