DISEASES

Disease-gene associations mined from literature

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Human genes for short-rib thoracic dysplasia 14 with polydactyly

Short-rib thoracic dysplasia 14 with polydactyly [DOID:0110096]

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

Synonyms:  short-rib thoracic dysplasia 14 with polydactyly,  DOID:0110096,  shortrib thoracic dysplasia 14 with polydactyly,  SRTD14

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.