DISEASES

Disease-gene associations mined from literature

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Human genes for pseudoachondroplasia

Pseudoachondroplasia [DOID:0080047]

An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.

Synonyms:  pseudoachondroplasia,  DOID:0080047,  pseudoachondroplasias,  pseudoachondroplastic dysplasia,  SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC ...

Linkouts:  OMIM

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.