DISEASES

Disease-gene associations mined from literature

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Human genes for Miura type epiphyseal chondrodysplasia

Miura type epiphyseal chondrodysplasia [DOID:0070316]

A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13.

Synonyms:  Miura type epiphyseal chondrodysplasia,  DOID:0070316,  Miura type epiphyseal chondrodysplasias,  ECDM,  tall stature-scoliosis-macrodactyly of the great toes syndrome ...

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.