DISEASES

Disease-gene associations mined from literature

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Human genes for spondyloepimetaphyseal dysplasia

Spondyloepimetaphyseal dysplasia [DOID:0080027]

An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.

Synonyms:  spondyloepimetaphyseal dysplasia,  DOID:0080027,  spondyloepimetaphyseal dysplasias

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.