DISEASES

Disease-gene associations mined from literature

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Human genes for spondyloepimetaphyseal dysplasia with joint laxity

Spondyloepimetaphyseal dysplasia with joint laxity [DOID:0112197]

A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.

Synonyms:  spondyloepimetaphyseal dysplasia with joint laxity,  DOID:0112197,  spondyloepimetaphyseal dysplasia with joint laxities,  SEMDJL,  SEMDJLs

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.