DISEASES

Disease-gene associations mined from literature

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Human genes for campomelic dysplasia

Campomelic dysplasia [DOID:0050463]

An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.

Synonyms:  campomelic dysplasia,  campomelic dysplasias,  DOID:0050463,  Acampomelic Campomelic Dysplasia,  Acampomelic Campomelic Dysplasias

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.