DISEASES

Disease-gene associations mined from literature

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Human genes for Alkuraya-Kucinskas syndrome

Alkuraya-Kucinskas syndrome [DOID:0111555]

A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in KIAA1109 on chromosome 4q27.

Synonyms:  Alkuraya-Kucinskas syndrome,  AlkurayaKucinskas syndrome,  Alkuraya-Kucinskas disease,  Alkuraya-Kucinskas disorder,  Alkuraya-Kucinskas syndromes ...

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.