DISEASES

Disease-gene associations mined from literature

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Human genes for multiple epiphyseal dysplasia with myopia and deafness

Multiple epiphyseal dysplasia with myopia and deafness [DOID:0111348]

A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.

Synonyms:  multiple epiphyseal dysplasia with myopia and deafness,  DOID:0111348,  multiple epiphyseal dysplasia with myopia and deafnesses,  EDMMD,  multiple epiphyseal dysplasia, Beighton type ...

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.