DISEASES

Disease-gene associations mined from literature

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Human genes for multiple epiphyseal dysplasia 1

Multiple epiphyseal dysplasia 1 [DOID:0070303]

A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.

Synonyms:  multiple epiphyseal dysplasia 1,  DOID:0070303,  EDM1,  multiple epiphyseal dysplasia COMP-related,  polyepiphyseal dysplasia type 1 ...

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.