DISEASES

Disease-gene associations mined from literature

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Human genes for syndactyly type 5

Syndactyly type 5 [DOID:0111819]

A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in HOXD13 on chromosome 2q31.1.

Synonyms:  syndactyly type 5,  DOID:0111819,  SDTY5,  syndactyly with associated metacarpal and metatarsal fusion,  syndactyly with associated metacarpal and metatarsal fusions

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.