DISEASES

Disease-gene associations mined from literature

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Human genes for Smith-McCort dysplasia

Smith-McCort dysplasia [DOID:0060247]

A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.

Synonyms:  Smith-McCort dysplasia,  DOID:0060247,  SmithMcCort dysplasia,  Smith-McCort 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.