DISEASES

Disease-gene associations mined from literature

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Human genes for Dyggve-Melchior-Clausen disease

Dyggve-Melchior-Clausen disease [DOID:0111167]

A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.

Synonyms:  Dyggve-Melchior-Clausen disease,  DOID:0111167,  DyggveMelchiorClausen disease,  Dyggve-Melchior-Clausen disorder,  Dyggve-Melchior-Clausen 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.