DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia [DOID:12721]

An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.

Synonyms:  multiple epiphyseal dysplasia,  DOID:12721,  multiple epiphyseal dysplasias,  polyepiphyseal dysplasia,  polyepiphyseal dysplasias

Linkouts:  OMIM #1 #2 #3 #4 #5 #6

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.